Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome explained
| Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome |
| Synonyms: | Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract, Bassoe syndrome[1] |
| Symptoms: | muscular, gonadal, and ocular anomalies |
| Onset: | Birth (muscular dystrophy), Infancy (cataracts), Birth/Puberty (hypogonadism), Birth (ovarian agenesis and klinefelter syndrome) |
| Duration: | Lifelong |
| Prevention: | None |
| Management: | --> |
| 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]
Notes and References
- Web site: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome . 16 June 2022 .
- Web site: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome — About the Disease — Genetic and Rare Diseases Information Center . 2022-06-09 . rarediseases.info.nih.gov . en.
- BASSÖE . HANS H. . Familial Congenital Muscular Dystrophy with Gonadal Dysgenesis . 1956-12-01 . The Journal of Clinical Endocrinology & Metabolism . 16 . 12 . 1614–1621 . 10.1210/jcem-16-12-1614 . 13385309 . 0021-972X.
- Bassoe . H. H. . December 1956 . Familial congenital muscular dystrophy with gonadal dysgenesis . The Journal of Clinical Endocrinology and Metabolism . 16 . 12 . 1614–1621 . 10.1210/jcem-16-12-1614 . 0021-972X . 13385309.
- Web site: OMIM Entry - 254000 - MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM . 2022-06-09 . omim.org . en-us.
- Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Congenital muscular dystrophy infantile cataract hypogonadism syndrome . 2022-06-09 . www.orpha.net . en.
