Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

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Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Other namesBenign 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 onsetBirth (muscular dystrophy), Infancy (cataracts), Birth/Puberty (hypogonadism), Birth (ovarian agenesis and klinefelter syndrome)
DurationLifelong
Causes Genetic mutation
PreventionNone
Prognosis Good
Frequencyvery 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

  1. ↑ "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome". 16 June 2022.
  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.{{cite web}}: CS1 maint: numeric names: authors list (link)
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