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Don’t fight Congenital deafness with vitiligo and achalasia alone.
Find your community on the free RareGuru App.Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Microphthalmia |
| Hypopigmented skin patches |
| Adermatoglyphia |
| Dense calvaria |
| Severe short stature |
| Achalasia |
| EEG abnormality |
| Sensorineural hearing impairment |
| Skeletal muscle atrophy |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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