[Familial congenital hypotrichosis with "uncombable hair," retinal pigmentary dystrophy, juvenile cataract and brachymetacarpia: another entity of the ectodermal dysplasia group].
A new ectodermal dysplasia syndrome is reported in a family of Caucasian ancestry. The syndrome consists of congenital hypotrichosis with "uncombable hair", juvenile cataract, retinal pigmentary dystrophy, oligodontia and brachymetacarpia, and is inherited as an autosomal dominant trait.
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002386:Cataract / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics
Familiäre kongenitale Hypotrichose mit "unkämmbaren Haaren", Retina-Pigmentblattdystrophie, juveniler Katarakt und Brachymetakarpie: eine weitere Entität aus der Gruppe der ektodermalen Dysplasien.