Tricho-retino-dento-digital syndrome

What is Tricho-retino-dento-digital 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.

Other condition names

  • Bork syndrome
  • Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Inheritance type

Autosomal dominant


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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