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Type I Trichorhinophalangeal Syndrome

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
Also Known As:
Trichorhinophalangeal Syndrome, Type I; Giedion syndrome; Trichorhinophalangeal (TRP) syndrome 1; Trichorhinophalangeal dysplasia 1
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