Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 15/04/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 22/04/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 29/04/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 06/05/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 13/05/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 20/05/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 27/05/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Broad forehead High forehead Hypotonia Low hair line (front) Mental retardation(degree not assessed) Posterior angulation of ears X-linked recessive inheritance Broad/bifid great toe Broad/bifid thumb Clinodactyly of fifth finger Congenital cardiac anomaly Difficulties for feeding in infancy Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Hypertelorism Imperforate anus/anal stenosis Macrocephaly Malplaced anus Micrognatia/retrognatia Protruding lips Restricted joint mobility Sparse/absent scalp hair(generalized) Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Camptodactyly Pyloric stenosis Stillbirth/neonatal death Syndactyly of fingers Update : 03/06/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 10/06/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 17/06/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 24/06/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 01/07/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 08/07/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 15/07/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 22/07/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 29/07/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 05/08/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 12/08/2007

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Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 19/08/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 26/08/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 02/09/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 09/09/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 16/09/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 23/09/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 30/09/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 07/10/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 14/10/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 21/10/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 28/10/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 04/11/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 18/11/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 25/11/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 02/12/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 09/12/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 16/12/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 23/12/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital heart defects, intestinal atresias and limb defects.*Author: Pr J.M. Opitz (August 2003)*. Full text http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf Clinical signs Anotia/microtia Anus anomalies Behaviour disorder/autism Broad forehead Corpus callosum/pellucidum agenesis Downslanted fissures High forehead Hypotonia Low set ears Mental retardation(degree not assessed) Posterior angulation of ears Brachydactyly Clinodactyly of fifth finger Congenital cardiac anomaly Constipation E.E.G.abnormality Epicanthic folds Expressionless face Fine hair High vaulted/narrow palate Micrognatia/retrognatia Mouth held open Seizures ( any type) Short foot/brachydactyly of toes Squint/paresis of ocular muscles Undescended/ectopic testes Abnormal gastrointestinal tract Hypertonia/spasticity/rigidity Inguinal hernia Ptosis Simian crease Stillbirth/neonatal death Update : 30/12/2007

Orphanet database access

Orphanet database access

FG syndrome Direct access to data Alias FG syndrome syndrome, type 1 FG syndrome syndrome, type 2 FG syndrome syndrome, type 3 FG syndrome syndrome, type 4 FG syndrome syndrome, type 5 Summary FG syndrome, initially considered a rare, completely recessive X-linked disorder occurring only in males and constituting a unique disorder, is now increasingly documented as a common disorder that may also affect carriers with a wide range of manifestations which extensively overlap those of the G/BBB (Opitz) syndrome. Typical manifestations include relative shortness compared to headsize, congenital hypotonia with delayed motor and speech development, gastroesophageal reflux, constipation, mild spastic diplegia with delayed development of sensory integration, attention deficit disorder, self-absorption and fascinations with mechanical toys and objects. Gross malformations may include agenesis of corpus callosum, Chiari I malformation, congenital hear