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Crouzon syndrome

Synonyms
CRANIOFACIAL DYSOSTOSIS, TYPE I; Craniofacial dysostosis; Craniofacial dysostosis type 1; Crouzon craniofacial dysostosis; Crouzon disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). [from OMIM]

Available tests

56 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (56 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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