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.



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Matched Phenotype  Gene  Mutation  MeSH
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Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0001006 Hypotrichosis Very frequent (99-80%)
HP:0001118 Juvenile cataract Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0007703 Abnormality of retinal pigmentation Very frequent (99-80%)
HP:0030056 Uncombable hair Very frequent (99-80%)
HP:0000677 Oligodontia Frequent (79-30%)
HP:0001155 Abnormality of the hand Frequent (79-30%)
HP:0011069 Increased number of teeth Frequent (79-30%)
HP:0010047 Short 5th metacarpal Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID