cardiofaciocutaneous syndrome 2
Findings
No curated finding names cardiofaciocutaneous syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.
Definition from the Mondo Disease Ontology (MONDO:0014112), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Absent eyebrowHPOHP:0002223
- Broad foreheadHPOHP:0000337
- Curly hairHPOHP:0002212
- Global developmental delayHPOHP:0001263
- High palateHPOHP:0000218
- Mitral valve prolapseHPOHP:0001634
- MyopiaHPOHP:0000545
- Peripheral axonal neuropathyHPOHP:0003477
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.
- KRASHGNC:6407
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
3 names
Resolves to: cardiofaciocutaneous syndrome 2
- Also called
- cardiofaciocutaneous syndrome caused by mutation in KRAScardiofaciocutaneous syndrome type 2KRAS cardiofaciocutaneous syndrome