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GTR Home > Conditions/Phenotypes > Trichorhinophalangeal syndrome, type III

Trichorhinophalangeal syndrome, type III

Synonyms
SUGIO-KAJII SYNDROME; TRPS 3; Trichorhinophalangeal syndrome type 3

Summary

Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by Ludecke et al., 2001). [from OMIM]

Available tests

25 tests are in the database for this condition.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GC79, LGCR, TRPS1
    Summary: transcriptional repressor GATA binding 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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