Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

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 namesBenign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract, Bassoe syndrome[1]
SpecialtyMedical genetics
Symptomsmuscular, gonadal, and ocular anomalies
ComplicationsInfertility, vision loss
Usual onsetBirth (muscular dystrophy), Infancy (cataracts), Birth/Puberty (hypogonadism), Birth (ovarian agenesis and klinefelter syndrome)
DurationLifelong
CausesGenetic mutation
PreventionNone
PrognosisGood
Frequencyvery rare, only eight cases have been reported in medical literature
Deaths-

References
  1. "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome".
  2. "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-09.
  3. 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.
  4. 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.
  5. "OMIM Entry - 254000 - MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM". omim.org. Retrieved 2022-06-09.
  6. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital muscular dystrophy infantile cataract hypogonadism syndrome". www.orpha.net. Retrieved 2022-06-09.
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