Cardio-facio-cutaneous syndrome

RASopathy with heart defects, sparse hair and ichthyosis.

Specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric genetics
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: BRAF, KRAS, MAP2K1, MAP2K2
Alternative names & eponyms: CFC syndrome

Etiology & mechanism

Activating RAS-MAPK pathway mutations.

Gene(s) involved (4)

BRAF KRAS MAP2K1 MAP2K2

Symptoms & signs (6)

In plain terms, someone with Cardio-facio-cutaneous syndrome may experience the following — click any to explore related syndromes:

cardiac defects developmental delay feeding problems ichthyosis short stature sparse curly hair

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

Chanarin–Dorfman syndrome

developmental delay, ichthyosis

2 shared

Kabuki syndrome

developmental delay, feeding problems

2 shared

Noonan syndrome

developmental delay, short stature

2 shared

Peters plus syndrome

developmental delay, short stature

2 shared

Rubinstein–Taybi syndrome

feeding problems, short stature

2 shared

Temple syndrome

feeding problems, short stature

1 shared

3M syndrome

short stature

1 shared

Aarskog–Scott syndrome

short stature

1 shared

Aicardi syndrome

developmental delay

1 shared

Andersen–Tawil syndrome

short stature

Shares genes with

4 shared

Cardiofaciocutaneous syndrome

BRAF, KRAS, MAP2K1, MAP2K2

3 shared

2 shared

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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