RASopathy with heart defects, coarse facies and ectodermal anomalies.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- BRAF, KRAS, MAP2K1, MAP2K2
- Alternative names & eponyms
- CFC syndrome
Etiology & mechanism
MAPK pathway activation.
Gene(s) involved (4)
Symptoms & signs (8)
In plain terms, someone with Cardiofaciocutaneous syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability, seizures
2 shared
Costello syndrome
hypertrophic cardiomyopathy, intellectual disability
2 shared
Crigler–Najjar syndrome
intellectual disability, seizures
2 shared
EAST syndrome
intellectual disability, seizures
2 shared
Hypohidrotic ectodermal dysplasia
dry skin, sparse hair
2 shared
Kabuki syndrome
atrial septal defect, feeding problems
2 shared
Langer–Giedion syndrome
intellectual disability, sparse hair
2 shared
LEOPARD syndrome
hypertrophic cardiomyopathy, pulmonary stenosis
2 shared
Mowat–Wilson syndrome
intellectual disability, seizures
2 shared
Nicolaides–Baraitser syndrome
seizures, sparse hair
Shares genes with
4 shared
Cardio-facio-cutaneous syndrome
BRAF, KRAS, MAP2K1, MAP2K2
3 shared
Noonan syndrome
BRAF, KRAS, MAP2K1
2 shared
LEOPARD syndrome
BRAF, MAP2K1
2 shared
Noonan syndrome with multiple lentigines
BRAF, MAP2K1
1 shared
Autoimmune lymphoproliferative syndrome
KRAS
1 shared
Gorham syndrome
KRAS
1 shared
Gorham–Stout syndrome
KRAS
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