McGillivray syndrome
MeSH: C566511ORPHA: 168624
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with McGillivray syndrome, sourced from HPO and Orphanet clinical annotations.
High palateTrigonocephalyMacrocephalyDolichocephalyMandibular prognathiaHypertelorismHigh foreheadUpslanted palpebral fissureMild intellectual disabilityToe syndactylyVentriculomegalyBroad hallux phalanxOpen biteMidface retrusion
Classification & Codes
MeSH Code
C566511Orphanet Code
ORPHA:168624McGillivray syndrome
| MeSH | C566511 |
| Orphanet | ORPHA:168624 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO