Term Name: | trichorhinophalangeal syndrome type I |
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Synonyms: | Trichorhinophalangeal dysplasia type I, trichorhinophalangeal syndrome type 1, type I trichorhinophalangeal syndrome |
Definition: | A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). |
Ontology: | Human Disease [DOID:14743] ( DOID:14743 ) |