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craniofrontonasal syndrome (craniofrontonasal dysplasia)
Genetics:
- X-linked inherited syndrome
- associated with defects in EFNB1 (ephrin B1)
Clinical manifestations:
- hypertelorism
- coronal synostosis with brachycephaly
- downslanting palpebral fissures
- clefting of the nasal tip
- joint anomalies,
- longitudinally grooved fingernails & other digital anomalies
General
X-linked disease
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 304110
References
OMIM :accession 304110