cardiofaciocutaneous syndrome
Findings
No curated finding names cardiofaciocutaneous syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0015280), read 2026-09-29. CC BY 4.0.
Features
79 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal eyelash morphologyHPOHP:0000499
- Very frequent (80% to 99% of cases)
- Abnormal heart valve morphologyHPOHP:0001654
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- Very frequent (80% to 99% of cases)
- Brittle hairHPOHP:0002299
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
Show the remaining 67
- Excessive wrinkled skinHPOHP:0007392
- Very frequent (80% to 99% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Genes
9 genes
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 · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- MAP2K1HGNC:6840
- Definitive · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- MAP2K2HGNC:6842
- Definitive · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- KRASHGNC:6407
- Strong · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: cardiofaciocutaneous syndrome
- Also called
- cardiofaciocutaneous (CFC) syndromeCFCCFC syndrome