Trichorhinophalangeal syndrome type I
From BugSigDB
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.
- Aliases
- Giedion syndrome
- Sugio-Kajii syndrome
- trichorhinophalangeal dysplasia type I
- trichorhinophalangeal syndrome type 1
- trichorhinophalangeal syndrome, type 1
- trichorhinophalangeal syndrome, type I
- TRPS 1
- TRPS1
- type I trichorhinophalangeal syndrome
- type III trichorhinophalangeal syndrome
