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Deafness-vitiligo-achalasia syndrome

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Medical condition
Deafness-vitiligo-achalasia
SpecialtyMedical genetics
CausesAutosomal recessive inheritance
Risk factorsBeing born to consanguineous parents
Preventionnone

Deafness-vitiligo-achalasia syndrome is an extremely rare genetic disorder characterized by congenital hearing loss, vitiligo, low height, muscle degeneration and achalasia. It was first discovered in 1971, when Rozycki et al., when they described two siblings of the opposite sex with the symptoms mentioned above. It is thought to be inherited in an autosomal recessive manner.

References

  1. "Deafness-vitiligo-achalasia syndrome (Concept Id: C1857339) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-21.
  2. "The portal for rare diseases and orphan drugs".
  3. "Congenital deafness with vitiligo and achalasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-21.
  4. "OMIM Entry - % 221350 - DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA". omim.org. Retrieved 2022-05-21.
  5. 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.
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