trichorhinophalangeal syndrome type I
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0017951
trichorhinophalangeal syndrome
is_a
Giedion syndrome
related
Sugio-Kajii syndrome
exact
TRPS 1
exact
TRPS1
exact
trichorhinophalangeal dysplasia (syndrome) types 1/3
exact
trichorhinophalangeal dysplasia type I
exact
trichorhinophalangeal dysplasia types 1/3
exact
trichorhinophalangeal syndrome type 1
exact
trichorhinophalangeal syndrome type I
exact
trichorhinophalangeal syndrome, type 1
exact
trichorhinophalangeal syndrome, type I
exact
type III trichorhinophalangeal syndrome
exact