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GTR Home > Conditions/Phenotypes > Crouzon syndrome-acanthosis nigricans syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Synonyms
CROUZONODERMOSKELETAL SYNDROME; Crouzon syndrome with acanthosis nigricans
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (123500), which is caused by mutation in the FGFR2 gene (176943). Cohen (1999) argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different. [from OMIM]

Available tests

64 tests are in the database for this condition.

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Clinical tests (64 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACH, CD333, CEK2, HSFGFR3EX, JTK4, FGFR3
    Summary: fibroblast growth factor receptor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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