ODCs

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Cardiofaciocutaneous syndrome

4 OMIM references -
4 associated genes
78 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 13

Megalencephaly-capillary malformation-polymicrogyria syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

Cardiofaciocutaneous syndrome

Megalencephaly-capillary malformation-polymicrogyria syndrome

BRAF	(UniProt - OMIM)	PIK3CA	(UniProt - OMIM)
KRAS	(UniProt - OMIM)
MAP2K1	(UniProt - OMIM)
MAP2K2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRAS	(0.7)	PIK3CA

Citations in the biomedical literature:

Cardiofaciocutaneous syndrome		Megalencephaly-capillary malformation-polymicrogyria syndrome
	Synonym(s): - CFC syndrome		Synonym(s): - MCAP - MCM - MCMTC - Macrocephaly - cutis marmorata telangiectatica congenita - Macrocephaly-capillary malformation syndrome - Megalencephaly - cutis marmorata telangiectatica congenita - Megalencephaly-capillary malformation syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 4 OMIM references - 1 MeSH reference: C535579		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Broad cheeks / cherub-like / cherubin face - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Congenital cardiac anomaly / malformation / cardiopathy - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hydrocephaly - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla

Cardiofaciocutaneous syndrome		Megalencephaly-capillary malformation-polymicrogyria syndrome
	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 - Brittle hair / distrix / trichorrhexis - Cardiac valvulopathy - Coarse face - Dry / squaly skin / exfoliation - Euryblepharon / wide palpebral fissures - Fine hair - Flat supraorbital ridge - Hairy patch - Helix thickened / sculpted - 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 - Deep palmar creases - 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 - 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 - 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 - Late puberty / hypogonadism / hypogenitalism - Loose skin / skin relaxation / excess skin / creases - Lymphedema - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Structural anomalies of the digestive tract		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Macrostomia / big mouth - Polydactyly of toes - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telangiectasiae of the skin - Upper limb polydactyly / hexadactyly - Visceral angiomatosis (excluding skin) Frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cutis marmorata / marbled skin / livedo - Dilated cerebral ventricles without hydrocephaly - Hyperextensible joints / articular hyperlaxity - Macules - Structural anomalies of the nervous system Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Arnold-Chiari anomaly - Cardiac rhythm disorder / arrhythmia - Deepset eyes / enophthalmos - Neoplasms / tumors - Transient cerebral ischemia / stroke