View source for Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

{{Infobox medical condition
|name            = Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
|synonyms        = Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract, Bassoe syndrome<ref>{{cite web |url=https://rarediseases.org/gard-rare-disease/congenital-muscular-dystrophy-infantile-cataract-hypogonadism-syndrome/ | title=Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | date=16 June 2022 }}</ref>
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|specialty       = [[Medical genetics]]
|symptoms        = muscular, gonadal, and ocular anomalies
|complications   = [[Infertility]], [[vision loss]]
|onset           = Birth (muscular dystrophy), Infancy (cataracts), Birth/Puberty (hypogonadism), Birth (ovarian agenesis and klinefelter syndrome)
|duration        = Lifelong
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|causes          = [[Genetic mutation]]
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|prevention      = None
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|prognosis       = Good
|frequency       = very rare, only eight cases have been reported in medical literature
|deaths          = -
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'''Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome''' is a very rare [[genetic disorder]] which is characterized by congenital [[muscular dystrophy]], infantile-onset [[cataract]], and [[hypogonadism]]. Males usually develop [[Klinefelter syndrome]] while females develop agenesis of the ovaries.<ref>{{Cite web |title=Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome&nbsp;— About the Disease&nbsp;— Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/835/congenital-muscular-dystrophy-infantile-cataract-hypogonadism-syndrome |access-date=2022-06-09 |website=rarediseases.info.nih.gov |language=en}}</ref> It has been described in eight individuals of which seven came from [[Finnmark]] County, [[Norway]].<ref>{{Cite journal |last=BASSÖE |first=HANS H. |title=Familial Congenital Muscular Dystrophy with Gonadal Dysgenesis |date=1956-12-01 |url=https://doi.org/10.1210/jcem-16-12-1614 |journal=The Journal of Clinical Endocrinology & Metabolism |volume=16 |issue=12 |pages=1614–1621 |doi=10.1210/jcem-16-12-1614 |pmid=13385309 |issn=0021-972X}}</ref><ref>{{Cite journal |last=Bassoe |first=H. H. |date=December 1956 |title=Familial congenital muscular dystrophy with gonadal dysgenesis |url=https://pubmed.ncbi.nlm.nih.gov/13385309/ |journal=The Journal of Clinical Endocrinology and Metabolism |volume=16 |issue=12 |pages=1614–1621 |doi=10.1210/jcem-16-12-1614 |issn=0021-972X |pmid=13385309}}</ref><ref>{{Cite web |title=OMIM Entry - 254000 - MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM |url=https://omim.org/entry/254000#1 |access-date=2022-06-09 |website=omim.org |language=en-us}}</ref> Inheritance pattern is thought to be autosomal recessive.<ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Congenital muscular dystrophy infantile cataract hypogonadism syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1875 |access-date=2022-06-09 |website=www.orpha.net |language=en}}</ref>
== References ==
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{{Genetic-disorder-stub|}}
[[Category:Rare genetic syndromes]]
[[Category:Muscular dystrophy]]
[[Category:Finnmark]]
[[Category:Chromosomal abnormalities]]