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1 OMIM reference -
1 associated gene
4 signs/symptoms
COMMON GENES: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Syndactyly type 3
Hypoplastic left heart syndrome

GJA1 GJA1
NKX2-5


COMMON
GENES
GJA1



Citations in the biomedical literature:


Syndactyly type 3
GJA1
Hypoplastic left heart syndrome
NKX2-5



Syndactyly type 3
Hypoplastic left heart syndrome

Synonym(s):
- SD3
- Syndactyly of fingers 4 and 5

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown

External references:
1 OMIM reference -
1 MeSH reference: C538154
External references:
2 OMIM references -
1 MeSH reference: D018636

Syndactyly type 3
Hypoplastic left heart syndrome

Very frequent
- Autosomal dominant inheritance
- Syndactyly of fingers / interdigital palm

Frequent
- Camptodactyly of some fingers

Occasional
- Short foot / brachydactyly of toes


Very frequent
- Hypoplastic left heart / ventricle
- Stillbirth / neonatal death

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication