Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
| 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 | - |
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]
References
- ↑ "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome". 16 June 2022.
- ↑ "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-09.
- ↑ BASSÖE, HANS H. (1956-12-01). "Familial Congenital Muscular Dystrophy with Gonadal Dysgenesis". The Journal of Clinical Endocrinology & Metabolism. 16 (12): 1614–1621. doi:10.1210/jcem-16-12-1614. ISSN 0021-972X. PMID 13385309.
- ↑ Bassoe, H. H. (December 1956). "Familial congenital muscular dystrophy with gonadal dysgenesis". The Journal of Clinical Endocrinology and Metabolism. 16 (12): 1614–1621. doi:10.1210/jcem-16-12-1614. ISSN 0021-972X. PMID 13385309.
- ↑ "OMIM Entry - 254000 - MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM". omim.org. Retrieved 2022-06-09.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy infantile cataract hypogonadism syndrome". www.orpha.net. Retrieved 2022-06-09.
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