trichorhinophalangeal syndrome type I

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Disease Overview

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.

Synonyms

Giedion syndrome
Sugio-Kajii syndrome
TRPS 1
TRPS1
trichorhinophalangeal dysplasia (syndrome) types 1/3
trichorhinophalangeal dysplasia type I
trichorhinophalangeal dysplasia types 1/3
trichorhinophalangeal syndrome type 1
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome, type 1
trichorhinophalangeal syndrome, type I
type I trichorhinophalangeal syndrome
type III trichorhinophalangeal syndrome

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.