Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 15/04/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 22/04/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 29/04/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 06/05/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 13/05/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 20/05/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 27/05/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 03/06/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 10/06/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 17/06/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 24/06/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 01/07/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 08/07/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 15/07/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 22/07/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 29/07/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 05/08/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 12/08/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 19/08/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 26/08/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 02/09/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 09/09/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 16/09/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 23/09/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 30/09/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs Anotia/microtia Cardiac septal defect Cerebral cortex atrophy Choanal atresia Coloboma of iris Congenital cardiac anomaly Difficulties for feeding in infancy Ear anomaly (shape/structure) Hearing loss Late puberty/hypogonadism Mental retardation(degree not assessed) Patent ductus arteriosus Prominent antihelix Undescended/ectopic testes Cleft palate Corpus callosum/pellucidum agenesis Micrognatia/retrognatia Short neck Small/hypoplastic ear lobe Abnormal ovaries Abnormal rib Brushfield spots Clinodactyly of fifth finger Diaphragmatic hernia/defect E.E.G.abnormality Encephalocele/exencephaly Flat cheek bones Imperforate anus/anal stenosis Long philtrum Male internal genitalia anomalies Microcephaly Microstoma Prominent / bat ears Ptosis Retinal detachment Seizures ( any type) Thick columella Tracheo-oesophageal fistula Update : 07/10/2007

Orphanet database access

Orphanet database access

CHARGE association Direct access to data Summary CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1 to 1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75 to 80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. *Authors: Drs K. Blake and C. Prasad (September 2006)*. Reproduced from CHARGE syndrome. Orphanet J Rare Dis. 2006;1(1):34. Full text http://www.orpha.net/data/patho/GB/CHARGE-interm.htm Clinical signs