# McGillivray syndrome

> Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability

**Wikidata**: [Q16947790](https://www.wikidata.org/wiki/Q16947790)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/McGillivray_syndrome)  
**Source**: https://4ort.xyz/entity/mcgillivray-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0012307)
5. UMLS 2023