/tricho-retino-dento-digital syndrome

tricho-retino-dento-digital syndrome

Rare Disease

MONDO:0008622

Also Known As

Bork syndromeuncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndromeBork Stender Schmidt syndromeuncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly

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.