TWIST1-related craniosynostosis
Findings
No curated finding names TWIST1-related craniosynostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007399), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
9 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.
- Aortic valve stenosisHPOHP:0001650
- 1 of 2 reported patients
- Biparietal narrowingHPOHP:0004422
- 1 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 2 reported patients
- Prominent occiputHPOHP:0000269
- 1 of 2 reported patients
- Right unicoronal synostosisHPOHP:0011317
- 1 of 2 reported patients
- Sagittal craniosynostosisHPOHP:0004442
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.
- TWIST1HGNC:12428
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: TWIST1-related craniosynostosis
- Also called
- craniosynostosis 1craniosynostosis type 1Primary Craniosynostosis