Tricho-retino-dento-digital syndrome
Tricho-retino-dento-digital syndrome
Definition
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 — per MONDO