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Cardiofaciocutaneous syndrome
4 OMIM references -
4 associated genes
74 connected diseases
78 signs/symptoms
Disease Type of connection
Noonan syndrome
Pilocytic astrocytoma
LEOPARD syndrome
Craniopharyngioma
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Costello syndrome
Linear nevus sebaceus syndrome
Hereditary nonpolyposis colon cancer
Familial pancreatic carcinoma
Juvenile myelomonocytic leukemia
Distal 22q11.2 microdeletion syndrome
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Phakomatosis pigmentokeratotica
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Split hand-split foot malformation
Cowden syndrome
Giant cell glioblastoma
Gliosarcoma
Herpetic encephalitis
Autosomal dominant hypohidrotic ectodermal dysplasia
Catecholaminergic polymorphic ventricular tachycardia
Noonan syndrome-like disorder with loose anagen hair
Follicular lymphoma
Hereditary spherocytosis
Intravascular large B-cell lymphoma
Uveal coloboma - cleft lip and palate - intellectual deficit
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
LIG4 syndrome
Omenn syndrome
Williams syndrome
CLOVE syndrome
Hemimegalencephaly
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Proteus syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal dominant secondary polycythemia
Behavioral variant of frontotemporal dementia
Dedifferentiated liposarcoma
Familial melanoma
Hereditary sensory and autonomic neuropathy type 2
Hyperbiliverdinemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Primary immunodeficiency syndrome due to p14 deficiency
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2C
Semantic dementia
Spastic paraplegia - Paget disease of bone
Well-differentiated liposarcoma
Autosomal dominant nonsyndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Burkitt lymphoma
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Synonym(s):
- CFC syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
4 OMIM references -
1 MeSH reference: C535579
Gene symbol UniProt reference OMIM reference
BRAF P15056164757
KRAS P01116190070
MAP2K1 Q02750176872
MAP2K2 P36507601263
Very frequent
- Absent / decreased / thin eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Anteverted nares / nostrils
- Atrial septal defect / interauricular communication
- Autosomal dominant inheritance
- Brittle hair / distrix / trichorrhexis
- Broad cheeks / cherub-like / cherubin face
- Cardiac valvulopathy
- Coarse face
- Congenital cardiac anomaly / malformation / cardiopathy
- Dry / squaly skin / exfoliation
- Euryblepharon / wide palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Flat supraorbital ridge
- Hairy patch
- Helix thickened / sculpted
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Palmoplantar hyperkeratosis / keratoderma
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Rippled skin
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / decreased lashes
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Deep palmar creases
- Depressed nasal bridge
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysplastic / thick / grooved fingernails
- EEG anomalies
- Epicanthic folds
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- High forehead
- High vaulted / narrow palate
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypertelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Long philtrum
- Long / large ear
- Low hair line (back)
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Myopia
- Narrow forehead
- Nystagmus
- Pectus excavatum
- Prematurity
- Ptosis
- Scoliosis
- Short neck
- Short / small nose
- slow growth of the hair
- Strabismus / squint
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Webbed neck / pterygium colli

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Cubitus valgus
- Elocution disorders / dysarthria / dysphonia
- Functional anomalies of the digestive system
- Genu valgum
- Hydrocephaly
- Late puberty / hypogonadism / hypogenitalism
- Loose skin / skin relaxation / excess skin / creases
- Lymphedema
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Structural anomalies of the digestive tract