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Craniofrontonasal dysplasia [Supplementary Concept]

An X-linked developmental disorder that is more severe in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, CRANIOSYNOSTOSIS; bifid nasal tip, grooved nails, wiry hair, and thoracic skeleton abnormalities; males typically show only HYPERTELORISM. It is caused by mutations in the EPHRIN-B1 (EFNB1) gene. OMIM: 304110

Date introduced: August 25, 2010

MeSH Unique ID: C536456

Heading Mapped to:

Entry Terms:

  • Craniofrontonasal dysostosis
  • Craniofrontonasal syndrome

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