Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly

Clinical Features

Bork et al. (1987) reported a 'new' type of ectodermal dysplasia with congenital hypotrichosis and uncombable hair, associated with juvenile cataracts, retinal pigmentary dystrophy, oligodontia, and brachymetacarpy. The condition was inherited as an autosomal dominant. Silengo et al. (1993) reported an isolated case. They illustrated the presence of supernumerary inferior lateral incisors and microdontia. The patient was mildly retarded. Scanning electron microscopy showed the presence of longitudinal grooves giving the typical appearance of pili canaliculi. Uncombable hair (see 191480), also referred to as 'spun-glass' hair, occurs as an isolated trait.

Inheritance

The transmission pattern of the syndrome described by Bork et al. (1987) was consistent with autosomal dominant inheritance.