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Craniofrontonasal dysplasia MeSH Supplementary Concept Data 2025


MeSH Supplementary
Craniofrontonasal dysplasia
Unique ID
C536456
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536456
Entry Term(s)
Craniofrontonasal dysostosis
Craniofrontonasal syndrome
Registry Numbers
0
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 Preferred
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