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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 609579
References
OMIM :accession 609579