" /> Trichorhinophalangeal syndrome, type I - CISMeF





Preferred Label : Trichorhinophalangeal syndrome, type I;

Symbol : TRPS1;

CISMeF acronym : TRPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Trps I;

Description : Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger transcription factor TRPS1 (TRPS1, 604386.0001);

Prefixed ID : #190350;

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03/05/2025


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