Tricho-retino-dento-digital syndrome

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Tricho-retino-dento-digital syndrome

Synonyms: Bork syndrome | Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome characterized by uncombable hair syndrome (see this term) congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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