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Familial scaphocephaly syndrome, McGillivray type
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.
ORPHA:168624Classification level: Disorder
- Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.0
- OMIM: 609579
- UMLS: C1865070
- MeSH: -
- GARD: -
- MedDRA: -
It has been reported in 11 patients from a three-generation family.
The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability.
Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene, FGFR2.
In this family, findings are consistent with autosomal dominant inheritance.