tricho-rhino-phalangeal syndrome type 1

Genetics

• autosomal dominant disorder
• associated with defects in TRPS1
• allelic with tricho-rhino-phalangeal syndrome type 3 Clinical abnormalities:
• craniofacial & skeletal abnormalities
• typical features include
  • sparse scalp hair
  • a bulbous tip of the nose
  • protruding ears
  • a long flat philtrum
  • a thin upper vermilion border
• skeletal defects include
  • cone-shaped epiphyses at the phalanges
  • hip malformations
  • short stature

More general terms

• tricho-rhino-phalangeal syndrome

Database

• OMIM: https://mirror.omim.org/entry/190350