Tricho-retino-dento-digital syndrome

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.

Also known as: Bork syndrome, uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome, Bork Stender Schmidt syndrome, uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly

0 clinical trials for this condition and its sub-types, 0 tagged with Tricho-retino-dento-digital syndrome itself.