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Синдром бранхіогенної глухоти

ORPHA:50815· ICD-10 Q87.0· Branchiogenic deafness syndrome

Визначення(English summary)

Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Antenatal, Neonatal