ODCs

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2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Proximal symphalangism

Angel-shaped phalango-epiphyseal dysplasia

GDF5	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
NOG	(UniProt - OMIM)

Citations in the biomedical literature:

Proximal symphalangism		Angel-shaped phalango-epiphyseal dysplasia
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - ASPED

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

	External references: 2 OMIM references - 1 MeSH reference: C536223		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Proximal symphalangism		Angel-shaped phalango-epiphyseal dysplasia
	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 - Metacarpal anomalies / Archibald's sign - Sensorineural deafness / hearing loss - Short hand / brachydactyly Occasional - Clinodactyly of fifth finger - Strabismus / squint - Syndactyly of fingers / interdigital palm - Wrist / carpal anomalies		Very frequent - Epiphyseal anomaly Frequent - Anomalies of teeth and dentition - Arthritis / synovitis / synovial proliferation - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short stature / dwarfism / nanism Occasional - Delayed bone age - Hyperextensible joints / articular hyperlaxity