familial scaphocephaly syndrome, McGillivray type
Findings
No curated finding names familial scaphocephaly syndrome, McGillivray type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0012307), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Open biteHPOHP:0010807
- Frequent (30% to 79% of cases)
- Broad hallux phalanxHPOHP:0010059
- Occasional (5% to 29% of cases)
- Mandibular prognathiaHPOHP:0000303
- Occasional (5% to 29% of cases)
- Toe syndactylyHPOHP:0001770
- Occasional (5% to 29% of cases)
- TrigonocephalyHPOHP:0000243
- Occasional (5% to 29% of cases)
Show the remaining 2
- Upslanted palpebral fissureHPOHP:0000582
- Occasional (5% to 29% of cases)
- VentriculomegalyHPOHP:0002119
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FGFR2HGNC:3689
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: familial scaphocephaly syndrome, McGillivray type
- Also called
- scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome