Definition of Deafness-vitiligo-achalasia syndrome
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.
Terms mentioned above
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Frequently asked questions
What is Deafness-vitiligo-achalasia syndrome?
Deafness-vitiligo-achalasia syndrome is an extremely rare genetic disorder characterized by congenital hearing loss, vitiligo, low height, muscle degeneration and achalasia.