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GTR Home > Conditions/Phenotypes > Craniofrontonasal syndrome

Craniofrontonasal syndrome

Synonyms
Craniofrontonasal dysostosis; Craniofrontonasal dysplasia
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004). [from OMIM]

Available tests

58 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2, EFNB1
    Summary: ephrin B1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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