Term Name: trichorhinophalangeal syndrome type I
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 )

Relationships
is a type of: autosomal dominant disease syndrome