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Familial scaphocephaly syndrome, McGillivray type

Disease definition

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:168624

  • Synonym(s):
    • 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: -

Additional information

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