cardiofaciocutaneous syndrome 1
Findings
No curated finding names cardiofaciocutaneous syndrome 1 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 BRAF gene.
Definition from the Mondo Disease Ontology (MONDO:0007265), 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
81 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.
- Blue iridesHPOHP:0000635
- 1 of 1 reported patient
- Broad neckHPOHP:0000475
- 2 of 2 reported patients
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
Show the remaining 69
- Pectus excavatumHPOHP:0000767
- 3 of 3 reported patients
- ProptosisHPOHP:0000520
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Short noseHPOHP:0003196
- 2 of 2 reported patients
- Sparse eyebrowHPOHP:0045075
- 1 of 1 reported patient
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.
- BRAFHGNC:1097
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: cardiofaciocutaneous syndrome 1
- Also called
- BRAF cardiofaciocutaneous syndromecardiofaciocutaneous syndrome caused by mutation in BRAFcardiofaciocutaneous syndrome type 1