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GTR Home > Conditions/Phenotypes > Craniofacial-deafness-hand syndrome

Craniofacial-deafness-hand syndrome

Synonyms
Features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder characterized by dysmorphic facial features, hand abnormalities, absent or hypoplastic nasal and wrist bones, and severe sensorineural hearing impairment (summary by Gad et al., 2008). [from OMIM]

Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDHS, HUP2, PAX-3, WS1, WS3, PAX3
    Summary: paired box 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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