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GTR Home > Conditions/Phenotypes > Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome

Synonyms
Beare-Stevenson Syndrome; Cutis Gyrata syndrome of Beare and Stevenson
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996). [from OMIM]

Available tests

44 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25, FGFR2
    Summary: fibroblast growth factor receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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