Medicine:Deafness-vitiligo-achalasia syndrome
From HandWiki
| Deafness-vitiligo-achalasia | |
|---|---|
| Specialty | Medical genetics |
| Causes | Autosomal recessive inheritance |
| Risk factors | Being born to consanguineous parents |
| Prevention | none |
Deafness-vitiligo-achalasia syndrome is an extremely rare genetic disorder characterized by congenital hearing loss, vitiligo, low height, muscle degeneration and achalasia.[1][2] It was first discovered in 1971, when Rozycki et al., when they described two siblings of the opposite sex with the symptoms mentioned above.[3][4][5] It is thought to be inherited in an autosomal recessive manner.
References
- ↑ "Deafness-vitiligo-achalasia syndrome (Concept Id: C1857339) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/347427.
- ↑ "The portal for rare diseases and orphan drugs". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239.
- ↑ "Congenital deafness with vitiligo and achalasia - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia.
- ↑ "OMIM Entry - % 221350 - DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA" (in en-us). https://omim.org/entry/221350#2.
- ↑ Rozycki, D. L.; Ruben, R. J.; Rapin, I.; Spiro, A. J. (February 1971). "Autosomal recessive deafnessassociated with short stature, vitiligo, muscle wasting and achalasia". Archives of Otolaryngology–Head & Neck Surgery 93 (2): 194–197. doi:10.1001/archotol.1971.00770060280016. ISSN 0003-9977. PMID 5100941. https://pubmed.ncbi.nlm.nih.gov/5100941/.
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