Bork Stender Schmidt syndrome
Alternate names
Bork syndrome; Uncombable 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.
NIH genetic and rare disease info
Bork Stender Schmidt syndrome is a rare disease.
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