Bork Stender Schmidt syndrome

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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.

Rare and genetic diseases

Rare diseases - Bork Stender Schmidt syndrome

A-Z list of rare diseases
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Bork Stender Schmidt syndrome

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