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Metadata
ID DOID:14737
Name craniofrontonasal syndrome
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.
https://www.omim.org/entry/304110, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520
Xrefs

GARD:1578

MESH:C536456

OMIM:304110

ORDO:1520

SNOMEDCT_US_2023_03_01:715421009

UMLS_CUI:C0220767

Subsets

DO_rare_slim

Synonyms

CFND [EXACT]

CFNS [EXACT]

craniofrontonasal dysostosis [EXACT]

craniofrontonasal dysplasia [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked dominant disease

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