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Brachydactyly type E

2 OMIM references -
2 associated genes
8 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Brachydactyly-syndactyly, Zhao type

1 OMIM reference -
1 associated gene
7 signs/symptoms

Brachydactyly type E

Brachydactyly-syndactyly, Zhao type

HOXD13	(UniProt - OMIM)		HOXD13	(UniProt - OMIM)
PTHLH	(UniProt - OMIM)


COMMON GENES	HOXD13

Citations in the biomedical literature:

Brachydactyly type E		Brachydactyly-syndactyly, Zhao type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign

Brachydactyly type E		Brachydactyly-syndactyly, Zhao type
	Frequent - Hyperextensible joints / articular hyperlaxity - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Frontal bossing / prominent forehead - Macrocephaly / macrocrania / megalocephaly / megacephaly - Upper limb asymmetry / hemiatrophy / hemihypertrophy		Very frequent - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of toes Frequent - Hallux valgus - Symphalangy of fingers