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

More general terms

• X-linked disease
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/304110