MeSH Browser

MeSH Supplementary: Trichorhinophalangeal Syndrome, Type I
Unique ID: C536820
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536820
Entry Term(s): Giedion syndrome; Trichorhinophalangeal (TRP) syndrome 1; Trichorhinophalangeal dysplasia 1
Registry Number: 0
Heading Mapped to: Fingers / *abnormalities; *Hair Diseases; Nose / *abnormalities; *Langer-Giedion Syndrome
Frequency: 49
Note: A hereditary autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat lip with a thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped EPIPHYSES at the phalanges, hip malformations, and short stature. Mutations in the TRPS1 gene have been identified. OMIM: 190350
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Trichorhinophalangeal Syndrome, Type I MeSH Supplementary Concept Data 2024