familial scaphocephaly syndrome; scaphocephaly with maxillary retrusion & mental retardation

Genetics

• autosomal dominant
• associated with defects in FGFR2

Clinical manifestations

• craniosynostosis syndrome
• scaphocephaly
• macrocephaly
• hypertelorism
• maxillary retrusion
• mild intellectual disability

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/609579