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Brachydactyly type B

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Idiopathic juvenile osteoporosis

2 OMIM references -
4 associated genes
6 signs/symptoms

Brachydactyly type B

Idiopathic juvenile osteoporosis

ROR2	(UniProt - OMIM)		DKK1	(UniProt - OMIM)
			LRP5	(UniProt - OMIM)
			WNT1	(UniProt - OMIM)
			WNT3A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ROR2	(0.63)	WNT1

Citations in the biomedical literature:

Brachydactyly type B		Idiopathic juvenile osteoporosis
	Synonym(s): (no synonyms)		Synonym(s): - IJO - Juvenile osteoporosis

	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): - Diseases of the musculoskeletal system and connective tissue -

	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: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Brachydactyly type B		Idiopathic juvenile osteoporosis
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Distal phalangeal bones of toes hypoplasia / absence - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Broad / bifid big toe - Broad / bifid thumb - Carpal bones fusion / synostosis - Symphalangy of fingers - Syndactyly of fingers / interdigital palm		Very frequent - Bone pain - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Frequent - Abnormal gait - Motor deficit / trouble Occasional - Kyphosis