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Syndactyly type 5

1 OMIM reference -
1 associated gene
8 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Brachydactyly type E

2 OMIM references -
2 associated genes
8 signs/symptoms

Syndactyly type 5

Brachydactyly type E

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


COMMON GENES	HOXD13

Citations in the biomedical literature:

Syndactyly type 5		Brachydactyly type E
	Synonym(s): - Postaxial syndactyly with metacarpal synostosis - SD5		Synonym(s): (no synonyms)

	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: <1 / 1 000 000 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: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538155		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia

Syndactyly type 5		Brachydactyly type E
	Very frequent - Ulnar deviation of fingers Frequent - Camptodactyly of fingers - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Clinodactyly of fifth finger		Frequent - Hyperextensible joints / articular hyperlaxity - Short stature / dwarfism / nanism Occasional - Frontal bossing / prominent forehead - Macrocephaly / macrocrania / megalocephaly / megacephaly - Upper limb asymmetry / hemiatrophy / hemihypertrophy