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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 15/04/2007

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Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 22/04/2007

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Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 29/04/2007

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Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 06/05/2007

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Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 13/05/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 20/05/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 27/05/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 03/06/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 10/06/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 17/06/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 24/06/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 01/07/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 08/07/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, dominant Kallmann syndrome, type 3, recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 15/07/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, autosomal dominant Kallmann syndrome, type 3, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 22/07/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, type 1, X linked Kallmann syndrome, type 2, autosomal dominant Kallmann syndrome, type 3, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 29/07/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 05/08/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 12/08/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 19/08/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 26/08/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 02/09/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 09/09/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 16/09/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 23/09/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism due to Gonadotropin releasing hormone (GnRH) deficiency, with anosmia or hyposmia. The incidence is estimated at 1 case in 10,000 males and 1 case in 50,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). Other possible signs include mirror movements of the upper limbs (synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, arched feet, and deafness. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Most of the reported cases are sporadic. Three modes of inheritance have been described for the familial forms: X-linked recessive, autosomal dominant, or more rarely, autosomal recessive. To date, only two of the genes responsible for this genetically heterogeneous disease have been identified: KAL-1, responsible for the X-linked form and FGFR1, involved in the autosomal dominant form (KAL-2). Several other genes are yet to be discovered. Diagnostic methods consist of hormone evaluation (GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Magnetic resonance imaging (MRI) shows hypoplasia or aplasia of the olfactory bulbs. Hormonal replacement is used to induce puberty, and later, fertility. *Author: Dr J-P. Hardelin (February 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 30/09/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome combines hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). The prevalence is estimated at 1 case in 8,000 males and 1 case in 40,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty and a partial or total loss of the sense of smell (anosmia) in both sexes. Other possible signs include mirror movements of the upper limbs (bimanual synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, deafness. Kallmann syndrome is due to an impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Sporadic cases have been predominantly reported. Three modes of inheritance have been described in familial forms: X-linked recessive, autosomal dominant, autosomal recessive. To date, four genes responsible for this disease have been identified: KAL1, responsible for the X-linked form, and FGFR1, PROKR2 and PROK2, involved in the autosomal forms. Several other genes are to be discovered. Diagnostic methods consist of hormones evaluation (sex hormone dosage, GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Morphological analysis of the olfactory bulbs by means of magnetic resonance imaging (MRI) can be useful (especially in young children, whose sense of smell is difficult to evaluate). Differential diagnosis includes isolated (i.e., without anosmia) gonadotropin-releasing hormone (GnRH) deficiency. Genetic counselling should be adapted to each family, taking into account the high variability of clinical expression, even within a family. Hormonal replacement is used to induce puberty, and later, fertility. Treatment for anosmia is not available. *Author: Dr J-P. Hardelin (October 2007)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 07/10/2007

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Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome combines hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). The prevalence is estimated at 1 case in 8,000 males and 1 case in 40,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty and a partial or total loss of the sense of smell (anosmia) in both sexes. Other possible signs include mirror movements of the upper limbs (bimanual synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, deafness. Kallmann syndrome is due to an impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Sporadic cases have been predominantly reported. Three modes of inheritance have been described in familial forms: X-linked recessive, autosomal dominant, autosomal recessive. To date, four genes responsible for this disease have been identified: KAL1, responsible for the X-linked form, and FGFR1, PROKR2 and PROK2, involved in the autosomal forms. Several other genes are to be discovered. Diagnostic methods consist of hormones evaluation (sex hormone dosage, GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Morphological analysis of the olfactory bulbs by means of magnetic resonance imaging (MRI) can be useful (especially in young children, whose sense of smell is difficult to evaluate). Differential diagnosis includes isolated (i.e., without anosmia) gonadotropin-releasing hormone (GnRH) deficiency. Genetic counselling should be adapted to each family, taking into account the high variability of clinical expression, even within a family. Hormonal replacement is used to induce puberty, and later, fertility. Treatment for anosmia is not available. *Author: Dr J-P. Hardelin (October 2007)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 14/10/2007

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Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome combines hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). The prevalence is estimated at 1 case in 8,000 males and 1 case in 40,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty and a partial or total loss of the sense of smell (anosmia) in both sexes. Other possible signs include mirror movements of the upper limbs (bimanual synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, deafness. Kallmann syndrome is due to an impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Sporadic cases have been predominantly reported. Three modes of inheritance have been described in familial forms: X-linked recessive, autosomal dominant, autosomal recessive. To date, four genes responsible for this disease have been identified: KAL1, responsible for the X-linked form, and FGFR1, PROKR2 and PROK2, involved in the autosomal forms. Several other genes are to be discovered. Diagnostic methods consist of hormones evaluation (sex hormone dosage, GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Morphological analysis of the olfactory bulbs by means of magnetic resonance imaging (MRI) can be useful (especially in young children, whose sense of smell is difficult to evaluate). Differential diagnosis includes isolated (i.e., without anosmia) gonadotropin-releasing hormone (GnRH) deficiency. Genetic counselling should be adapted to each family, taking into account the high variability of clinical expression, even within a family. Hormonal replacement is used to induce puberty, and later, fertility. Treatment for anosmia is not available. *Author: Dr J-P. Hardelin (October 2007)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 21/10/2007

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Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome combines hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). The prevalence is estimated at 1 case in 8,000 males and 1 case in 40,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty and a partial or total loss of the sense of smell (anosmia) in both sexes. Other possible signs include mirror movements of the upper limbs (bimanual synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, deafness. Kallmann syndrome is due to an impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Sporadic cases have been predominantly reported. Three modes of inheritance have been described in familial forms: X-linked recessive, autosomal dominant, autosomal recessive. To date, four genes responsible for this disease have been identified: KAL1, responsible for the X-linked form, and FGFR1, PROKR2 and PROK2, involved in the autosomal forms. Several other genes are to be discovered. Diagnostic methods consist of hormones evaluation (sex hormone dosage, GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Morphological analysis of the olfactory bulbs by means of magnetic resonance imaging (MRI) can be useful (especially in young children, whose sense of smell is difficult to evaluate). Differential diagnosis includes isolated (i.e., without anosmia) gonadotropin-releasing hormone (GnRH) deficiency. Genetic counselling should be adapted to each family, taking into account the high variability of clinical expression, even within a family. Hormonal replacement is used to induce puberty, and later, fertility. Treatment for anosmia is not available. *Author: Dr J-P. Hardelin (October 2007)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 28/10/2007

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Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome combines hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). The prevalence is estimated at 1 case in 8,000 males and 1 case in 40,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty and a partial or total loss of the sense of smell (anosmia) in both sexes. Other possible signs include mirror movements of the upper limbs (bimanual synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, deafness. Kallmann syndrome is due to an impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Sporadic cases have been predominantly reported. Three modes of inheritance have been described in familial forms: X-linked recessive, autosomal dominant, autosomal recessive. To date, four genes responsible for this disease have been identified: KAL1, responsible for the X-linked form, and FGFR1, PROKR2 and PROK2, involved in the autosomal forms. Several other genes are to be discovered. Diagnostic methods consist of hormones evaluation (sex hormone dosage, GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Morphological analysis of the olfactory bulbs by means of magnetic resonance imaging (MRI) can be useful (especially in young children, whose sense of smell is difficult to evaluate). Differential diagnosis includes isolated (i.e., without anosmia) gonadotropin-releasing hormone (GnRH) deficiency. Genetic counselling should be adapted to each family, taking into account the high variability of clinical expression, even within a family. Hormonal replacement is used to induce puberty, and later, fertility. Treatment for anosmia is not available. *Author: Dr J-P. Hardelin (October 2007)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Congenital cardiac anomaly Deafness(sensori-neural) Delayed bone age Insulino dependent diabetes Mental retardation(degree not assessed) Movement disorder Short fourth metacarpal Uterine/vaginal abnormality Vascular hypertension Update : 04/11/2007

Orphanet database access

Orphanet database access

Kallmann syndrome Direct access to data Alias Dysplasia olfactogenitalis of De Morsier Kallmann syndrome, X linked Kallmann syndrome, autosomal dominant Kallmann syndrome, autosomal recessive Summary Kallmann syndrome combines hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). The prevalence is estimated at 1 case in 8,000 males and 1 case in 40,000 females. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty and a partial or total loss of the sense of smell (anosmia) in both sexes. Other possible signs include mirror movements of the upper limbs (bimanual synkinesis), unilateral or bilateral renal aplasia, cleft lip/palate, dental agenesis, deafness. Kallmann syndrome is due to an impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. Sporadic cases have been predominantly reported. Three modes of inheritance have been described in familial forms: X-linked recessive, autosomal dominant, autosomal recessive. To date, four genes responsible for this disease have been identified: KAL1, responsible for the X-linked form, and FGFR1, PROKR2 and PROK2, involved in the autosomal forms. Several other genes are to be discovered. Diagnostic methods consist of hormones evaluation (sex hormone dosage, GnRH stimulation test) as well as qualitative and quantitative olfactometric evaluation. Morphological analysis of the olfactory bulbs by means of magnetic resonance imaging (MRI) can be useful (especially in young children, whose sense of smell is difficult to evaluate). Differential diagnosis includes isolated (i.e., without anosmia) gonadotropin-releasing hormone (GnRH) deficiency. Genetic counselling should be adapted to each family, taking into account the high variability of clinical expression, even within a family. Hormonal replacement is used to induce puberty, and later, fertility. Treatment for anosmia is not available. *Author: Dr J-P. Hardelin (October 2007)*. Full text http://www.orpha.net/data/patho/GB/uk-kallmann05.pdf Clinical signs Anosmia/cacosmia Autosomal dominant inheritance Autosomal recessive inheritance Hypothal.hypoph. axis abn. function Late puberty/hypogonadism Micropenis/small penis Small/atrophic testes Sterility/hypofertility Undescended/ectopic testes X-linked recessive inheritance Generalized obesity Gynecomastia/breast enlargement Achromatopsia/dyscchromatopsia Agenesis/hypoplasia of kidneys Choanal atresia Chromosomal rearrangement (de novo) Cleft lip lateral Cleft palate Co