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Curry-Hall syndrome

Synonyms
Acrofacial dysostosis of Weyers; WEYERS ACRODENTAL DYSOSTOSIS; Weyers Acrofacial Dysostosis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Weyers acrofacial dysostosis (WAD) is an autosomal dominant disorder with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997). [from OMIM]

Available tests

78 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (78 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DWF-1, EVC1, EVCL, EVC
    Summary: EvC ciliary complex subunit 1

  • Also known as: LBN, WAD, EVC2
    Summary: EvC ciliary complex subunit 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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