Deafness With Anhidrotic Ectodermal Dysplasia

Clinical Features

Helweg-Larsen and Ludvigsen (1946) reported a kindred of 14 in 5 generations with anhidrosis, 5 of whom had defective hearing with onset between 35 and 45 years of age. There were no dental or hair anomalies.

Ellington (1951) reported 2 brothers with anhidrosis, dry skin, dental anomalies, thin hair, and sparse eyebrows. Both had hearing loss, severe in one and slight in the other, and both suffered from chronic otitis media.

See also autosomal dominant deafness and onychodystrophy (124480).

Inheritance

There were several instances of father-son transmission in the family reported by Helweg-Larsen and Ludvigsen (1946), suggesting autosomal dominant inheritance.