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Trichorhinophalangeal dysplasia type I

Synonyms
Giedion syndrome; TRPS I; Trichorhinophalangeal Syndrome Type I; Trichorhinophalangeal syndrome type 1

Summary

Excerpted from the GeneReview: Trichorhinophalangeal Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by a contiguous gene deletion of TRPS1, RAD21, and EXT1). Both TRPS types are characterized by distinctive facial features (large nose with broad nasal ridge and tip and underdeveloped alae; thick and broad medial eyebrows; long philtrum; thin vermilion of the upper lip; and large prominent ears); ectodermal features (fine, sparse, depigmented, and slow-growing hair and dystrophic nails); and skeletal findings (short stature, brachydactyly with ulnar or radial deviation of the fingers, short feet, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas and an increased risk of mild-to-moderate intellectual disability.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Beyhan Tüysüz
Nilay Güneş
Dilek Uludağ Alkaya
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Available tests

33 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (33 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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