craniofrontonasal syndrome


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craniofrontonasal syndrome

A rare X-linked syndrome (OMIM:304110) characterised by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies.

Molecular pathology
Defects of EFNB1, which encodes a cell surface GPI-bound ligand for ephrin receptors, cause craniofrontonasal syndrome.

craniofrontonasal syndrome

(krā″nē-ō-frŭn″tō-nā′zĭl) [″ + ″ + ″]
An X-linked disorder characterized by malformation of the cranial suture of the skull. Girls born with this disorder are more severely affected than boys, i.e., they are more likely to have dysmorphic facial and cranial features.
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