craniosynostosis 2
Findings
No curated finding names craniosynostosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
Definition from the Mondo Disease Ontology (MONDO:0011481), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- CraniosynostosisHPOHP:0001363
- 8 of 8 reported patients
- Bicoronal synostosisHPOHP:0011318
- 2 of 8 reported patients
- BrachycephalyHPOHP:0000248
- 2 of 8 reported patients
- HypotelorismHPOHP:0000601
- 2 of 8 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 8 reported patients
- Metopic synostosisHPOHP:0011330
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.
- MSX2HGNC:7392
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: craniosynostosis 2
- Also called
- craniosynostosis type 2craniosynostosis, Warman typeCRS2MSX2-related craniosynostosisWarman-Mulliken-Hayward syndrome