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Proximal symphalangism

2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Brachydactyly type A1

3 OMIM references -
2 associated genes
13 signs/symptoms

Proximal symphalangism

Brachydactyly type A1

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


COMMON GENES	GDF5

Citations in the biomedical literature:

Proximal symphalangism		Brachydactyly type A1
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - Brachydactyly, Farabee 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: unknown 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: 3 OMIM references - 1 MeSH reference: C537088


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

Proximal symphalangism		Brachydactyly type A1
	Very frequent - Camptodactyly of some fingers - Carpal bones fusion / synostosis - 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		Very frequent - Short big toe - Short foot / brachydactyly of toes - Short stature / dwarfism / nanism - Thumb hypoplasia / aplasia / absence Frequent - Cone epiphyses / epiphysis Occasional - Scoliosis - Talipes-varus / metatarsal varus - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray