MeSH Browser

MeSH Supplementary: Craniofrontonasal dysplasia
Unique ID: C536456
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536456
Entry Term(s): Craniofrontonasal dysostosis; Craniofrontonasal syndrome
Heading Mapped to: *Craniofacial Abnormalities
Frequency: 28
Note: 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 of Entry: 2010/08/25
Revision Date: 2016/09/29

Craniofrontonasal dysplasia MeSH Supplementary Concept Data 2024