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