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Craniometaphyseal dysplasia

2 OMIM references -
2 associated genes
14 signs/symptoms

COMMON GENES: 1

Hypoplastic left heart syndrome

2 OMIM references -
2 associated genes
8 signs/symptoms

Craniometaphyseal dysplasia

Hypoplastic left heart syndrome

ANKH	(UniProt - OMIM)		GJA1	(UniProt - OMIM)
GJA1	(UniProt - OMIM)		NKX2-5	(UniProt - OMIM)


COMMON GENES	GJA1

Citations in the biomedical literature:

Craniometaphyseal dysplasia		Hypoplastic left heart syndrome
	Synonym(s): - CMD		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: <1 / 1 000 000 Average age onset: childhood 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: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D018636

Craniometaphyseal dysplasia		Hypoplastic left heart syndrome
	Very frequent - Autosomal dominant inheritance - Broad nasal root - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Hypertelorism - Metaphyseal anomaly - Osteosclerosis / osteopetrosis / bone condensation Frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Telecanthus / canthal dystopy Occasional - Conductive deafness / hearing loss - Cranial nerve anomalies - Facial palsy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia		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