Deafness-vitiligo-achalasia syndrome
ORPHA:3239· ICD-10 Q87.8
Definition
A rare otorhinolaryngologic disease characterized by congenital deafness with profound sensorineural hearing loss, short stature, vitiligo, muscle wasting, and achalasia. There have been no further descriptions in the literature since 1971.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal