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Megalencephaly-capillary malformation-polymicrogyria syndrome
1 OMIM reference -
1 associated gene
36 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
22q11.2 deletion syndrome
2 OMIM references -
6 associated genes
98 signs/symptoms
Megalencephaly-capillary malformation-polymicrogyria syndrome
22q11.2 deletion syndrome

PIK3CA
(UniProt - OMIM)
 ARVCF
(UniProt - OMIM)
COMT
(UniProt - OMIM)
GP1BB
(UniProt - OMIM)
HIRA
(UniProt - OMIM)
TBX1
(UniProt - OMIM)
UFD1L
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.63)
UFD1L


Citations in the biomedical literature:


Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA
22q11.2 deletion syndrome
ARVCF COMT GP1BB HIRA TBX1 UFD1L



Megalencephaly-capillary malformation-polymicrogyria syndrome
22q11.2 deletion 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):
- 22q11DS
- CATCH 22
- Cayler cardiofacial syndrome
- Conotruncal anomaly face syndrome
- DiGeorge sequence
- DiGeorge syndrome
- Microdeletion 22q11.2
- Monosomy 22q11
- Sedlackova syndrome
- Shprintzen syndrome
- Takao syndrome
- Velocardiofacial syndrome
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Polydactyly of toes
- Upper limb polydactyly / hexadactyly

Megalencephaly-capillary malformation-polymicrogyria syndrome
22q11.2 deletion syndrome

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macrostomia / big mouth
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telangiectasiae of the skin
- Visceral angiomatosis (excluding skin)

Frequent
- Broad cheeks / cherub-like / cherubin face
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cutis marmorata / marbled skin / livedo
- Dilated cerebral ventricles without hydrocephaly
- Frontal bossing / prominent forehead
- High forehead
- 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
- Depressed nasal bridge
- Neoplasms / tumors
- Transient cerebral ischemia / stroke


Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anomaly of the pharynx / pharyngeal anomaly
- Aortic arches anomalies
- Atrial septal defect / interauricular communication
- Cleft lip and palate
- Common arterial trunk / truncal valve
- Epicanthic folds
- Facial dysmorphism
- High nasal bridge
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Pulmonary valve atresia / stenosis / narrowing
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Telecanthus / canthal dystopy
- Tetralogy of Fallot / trilogy of Fallot
- Thymic aplasia / hypoplasia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Ventricular septal defect / interventricular communication

Frequent
- Acne / acnea
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Chronic / relapsing otitis
- Constipation
- Flat cheek bones / malar hypoplasia
- Folded helix
- Hearing loss / hypoacusia / deafness
- Hyperactivity / attention deficit
- Hypocalcemia
- Hypoparathyroidy
- Long face
- Multiple caries
- Ptosis
- Renal / kidney anomalies
- Seborrhea / hyperseborrhea / seborrheic dermatitis
- Short neck
- Small / hypoplastic / adherent / absent ear lobe

Occasional
- Acute arterial hypertension / hypertensive crisis
- Agenesis / hypoplasia / aplasia of kidneys
- Anomalies of chest / thorax / trunk
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Arthritis / synovitis / synovial proliferation
- Asthma / bronchospasm
- Atelectasia / pulmonary collapse
- Autism / autistic disoders
- Autoimmunity / autoimmune reaction / autoantibodies
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Cataract / lens opacification
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Craniostenosis / craniosynostosis / sutural synostosis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Early death / lethality
- Enamel anomaly
- Encopresis / fecal incontinence
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertelorism
- Hyperthyroidy
- Hypospadias / epispadias / bent penis
- Hypothyroidy
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intestinal / gut / bowel malrotation
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Multicystic kidney / renal dysplasia
- Patella dislocation
- Patent ductus arteriosus
- Platelet disorders / thrombopathies
- Polycystic kidneys
- Psychic / behavioural troubles
- Psychosis / schizophrenia / maniac disorder
- Purpura / petichiae
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spina bifida
- Splenomegaly
- Stillbirth / neonatal death
- Strabismus / squint
- Thrombocytopenia / thrombopenia
- tricuspid valve atresia / stenosis / narrowing
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies
- Varices / varicous veins / venous insufficiency
- Vesicorenal / vesicoureteral reflux