cardiofaciocutaneous syndrome 4
Findings
No curated finding names cardiofaciocutaneous syndrome 4 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 MAP2K2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014114), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
39 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.
- Abnormal aortic valve morphologyHPOHP:0001646
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Curly hairHPOHP:0002212
- 14 of 14 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 2 of 2 reported patients
- Heat intoleranceHPOHP:0002046
Show the remaining 27
- Narrow faceHPOHP:0000275
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Optic nerve hypoplasiaHPOHP:0000609
- 1 of 1 reported patient
- Palmoplantar hyperkeratosisHPOHP:0000972
- 3 of 3 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 2 of 2 reported patients
- PtosisHPOHP:0000508
- 2 of 2 reported patients
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.
- MAP2K2HGNC:6842
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: cardiofaciocutaneous syndrome 4
- Also called
- cardiofaciocutaneous syndrome caused by mutation in MAP2K2cardiofaciocutaneous syndrome type 4MAP2K2 cardiofaciocutaneous syndrome