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Complete atrioventricular canal - ventricle hypoplasia
3 associated genes
No signs/symptoms info
COMMON GENES: 1
8p23.1 microdeletion syndrome
1 associated gene
37 signs/symptoms
Complete atrioventricular canal - ventricle hypoplasia
8p23.1 microdeletion syndrome

CRELD1
(UniProt - OMIM)
 GATA4
(UniProt - OMIM)
GATA4
(UniProt - OMIM)
GATA6
(UniProt - OMIM)

COMMON
GENES 		GATA4


Citations in the biomedical literature:


Complete atrioventricular canal - ventricle hypoplasia
CRELD1 GATA4 GATA6
8p23.1 microdeletion syndrome



Complete atrioventricular canal - ventricle hypoplasia
8p23.1 microdeletion syndrome

Synonym(s):
- CAVC - ventricle hypoplasia
- CAVC type B
- Complete atrioventricular canal type B
Synonym(s):
- Del(8)(p23.1)
- Monosomy 8p23.1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
8p23.1 microdeletion syndrome

Very frequent
- Autosomal dominant inheritance
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation

Frequent
- Atrioventricular canal
- Broad nose / nasal bridge
- Cardiac septal defect
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- High vaulted / narrow palate
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypospadias / epispadias / bent penis
- Microcephaly
- Narrow forehead
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short neck
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Cardiomyopathy / hypertrophic / dilated
- Deepset eyes / enophthalmos
- Diaphragmatic hernia / defect / agenesis
- Generalized obesity
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic left heart / ventricle
- Patent ductus arteriosus
- Proximally set thumb
- Tetralogy of Fallot / trilogy of Fallot
- Transposition of great vessels


Complete atrioventricular canal - ventricle hypoplasia

(no data available)