ODCs

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Megalencephaly-capillary malformation-polymicrogyria syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 6

Costello syndrome

1 OMIM reference -
2 associated genes
46 signs/symptoms

Megalencephaly-capillary malformation-polymicrogyria syndrome

Costello syndrome

PIK3CA	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
			KRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3CA PIK3CA	(0.95) (0.7)	HRAS KRAS

Citations in the biomedical literature:

Megalencephaly-capillary malformation-polymicrogyria syndrome		Costello syndrome
	Synonym(s): - MCAP - MCM - MCMTC - Macrocephaly - cutis marmorata telangiectatica congenita - Macrocephaly-capillary malformation syndrome - Megalencephaly - cutis marmorata telangiectatica congenita - Megalencephaly-capillary malformation syndrome		Synonym(s): - FCS syndrome - Faciocutaneoskeletal syndrome - Intellectual deficit - nasal papillomata

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056685


COMMON SIGNS	- Broad cheeks / cherub-like / cherubin face - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly

Megalencephaly-capillary malformation-polymicrogyria syndrome		Costello syndrome
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - 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 - Frontal bossing / prominent forehead - High forehead - Hydrocephaly - Hypotonia - 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 - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Neoplasms / tumors - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Transient cerebral ischemia / stroke		Very frequent - Acanthosis nigricans - Anomalies of skin, subcutaneous tissue and mucosae - Antenatal exposure : alcohol - Delayed bone age - Enamel anomaly - High vaulted / narrow palate - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Loose skin / skin relaxation / excess skin / creases - Pulmonary valve atresia / stenosis / narrowing - Short neck - Short stature / dwarfism / nanism - Thin / hypoplastic / hyperconvex fingernails - Tight skin / lack of elasticity - Ventricular septal defect / interventricular communication - Woolly / frizzy hair Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal dermatoglyphics - Cardiomyopathy / hypertrophic / dilated - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Epicanthic folds - Excess nuchal skin without pterygium colli - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Keratoconus / keratoglobus - Macroglossia / tongue protrusion / proeminent / hypertrophic - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Polyhydramnios - Strabismus / squint - Tendon rupture / tendinitis / bursitis / tenosynovitis - Thick lips - Thin / hypoplastic toenails - Ulnar deviation of fingers - Undescended / ectopic testes / cryptorchidia / unfixed testes - Warts / papillomas Occasional - Coarse face - Diffuse / generalised skin hyperpigmentation / melanoderma - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hair and scalp anomalies - Large face - Low set ears / posteriorly rotated ears - Thick / wide ear lobe