craniofrontonasal syndrome (DOID:14737)
Alliance: disease page
Synonyms: CFND; CFNS; craniofrontonasal dysostosis; craniofrontonasal dysplasia
Alt IDs: OMIM:304110, MESH:C536456, ORDO:1520, UMLS_CUI:C0220767
Definition: A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.