/trichorhinophalangeal syndrome type I

trichorhinophalangeal syndrome type I

Rare Disease

MONDO:0008596

Also Known As

Sugio-Kajii syndromeTRPS 1TRPS1trichorhinophalangeal dysplasia (syndrome) types 1/3trichorhinophalangeal dysplasia type Itrichorhinophalangeal dysplasia types 1/3trichorhinophalangeal syndrome type 1trichorhinophalangeal syndrome type Itrichorhinophalangeal syndrome, type 1trichorhinophalangeal syndrome, type Itype I trichorhinophalangeal syndrometype III trichorhinophalangeal syndromeGiedion syndrome

Definition

An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.