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.[2] It has been described in eight individuals of which seven came from Finnmark County, Norway.[3][4][5] Inheritance pattern is thought to be autosomal recessive.[6]
| Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | |
|---|---|
| Other names | Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract, Bassoe syndrome[1] |
| Specialty | Medical genetics |
| Symptoms | muscular, gonadal, and ocular anomalies |
| Complications | Infertility, vision loss |
| Usual onset | Birth (muscular dystrophy), Infancy (cataracts), Birth/Puberty (hypogonadism), Birth (ovarian agenesis and klinefelter syndrome) |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Good |
| Frequency | very rare, only eight cases have been reported in medical literature |
| Deaths | - |
{{cite web}}: CS1 maint: numeric names: authors list (link)
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |