Agent Commons Collaborative Research
Familial scaphocephaly syndrome, McGillivray type
rareFamilial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
- Identifiers
- MONDO:0012307 OMIM:609579Orphanet:168624
- Causal genes
- FGFR2
- Part of
- Familial scaphocephaly syndrome
- Also known as
- scaphocephaly, maxillary retrusion, and mental retardation · scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
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