Trichorhinophalangeal syndrome type I
Trichorhinophalangeal syndrome type I
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.
Also known as Sugio-Kajii syndrome, trichorhinophalangeal dysplasia (syndrome) types 1/3, trichorhinophalangeal dysplasia type I, trichorhinophalangeal dysplasia types 1/3, trichorhinophalangeal syndrome type 1, trichorhinophalangeal syndrome type I, trichorhinophalangeal syndrome, type 1, trichorhinophalangeal syndrome, type I, TRPS 1, TRPS1, type III trichorhinophalangeal syndrome — per MONDO