craniosynostosis
MONDO:0015469Mondo
Findings
No curated finding names craniosynostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
Definition from the Mondo Disease Ontology (MONDO:0015469), read 2026-09-29. CC BY 4.0.
Genes
8 genes
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.
- SIX1HGNC:10887
- Strong · G2P · Autosomal dominant · 2025
- PRRX1HGNC:9142
- Moderate · G2P · Autosomal dominant · 2024
- RARAHGNC:9864
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- SPRY1HGNC:11269
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- AXIN2HGNC:904
- Limited · Ambry Genetics · Autosomal dominant · 2018
- DHRS3HGNC:17693
- Limited · G2P · Autosomal recessive · 2017
- EFNA4HGNC:3224
- Limited · PanelApp Australia · Autosomal dominant · 2025
- FGF10HGNC:3666
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
- Narrower terms (29)
- craniosynostosis alopecia brain defect
- craniosynostosis arthrogryposis cleft palate
- craniosynostosis autosomal dominant
- craniosynostosis cleft lip palate arthrogryposis
- craniosynostosis contractures cleft
- craniosynostosis exostoses nevus epibulbar dermoid
- craniosynostosis Fontaine type
- craniosynostosis intellectual disability heart defects
- craniosynostosis Maroteaux Fonfria type
- craniosynostosis syndrome, autosomal recessive
- craniosynostosis with ectopia lentis
- craniosynostosis with ocular abnormalities and hallucal defects
- craniosynostosis, Adelaide type
- Hordnes Engebretsen Knudtson syndrome
- Iida Kannari syndrome
- isolated craniosynostosis
- mehta lewis patton syndrome
- non-syndromic bicoronal and metopic craniosynostosis
Other names
2 names
Resolves to: craniosynostosis
- Also called
- craniosynostosis syndromepremature closure of cranial sutures