ODCs

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2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

1 OMIM reference -
3 associated genes
6 signs/symptoms

Proximal symphalangism

Brachydactyly type A2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GDF5 NOG	(0.9) (0.85)	BMPR1B BMP2

Citations in the biomedical literature:

Proximal symphalangism		Brachydactyly type A2
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - Brachydactyly, Mohr-Wriedt 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 - 1 MeSH reference: C536223		External references: 1 OMIM reference - 1 MeSH reference: C537089


COMMON SIGNS	- Autosomal dominant inheritance - Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly

Proximal symphalangism		Brachydactyly type A2
	Very frequent - Camptodactyly of some fingers - Carpal bones fusion / synostosis - Symphalangy of fingers - Tarsal anomaly / fusion / synostosis Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Elbow dislocation - Humeroradial fusion - Sensorineural deafness / hearing loss Occasional - Strabismus / squint - Syndactyly of fingers / interdigital palm - Wrist / carpal anomalies		Frequent - Short foot / brachydactyly of toes Occasional - Terminal / third phalangeal bone of fingers hypoplasia