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Stapes ankylosis with broad thumbs and toes

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Proximal symphalangism

2 OMIM references -
2 associated genes
15 signs/symptoms

Stapes ankylosis with broad thumbs and toes

Proximal symphalangism

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


COMMON GENES	NOG

Citations in the biomedical literature:

Stapes ankylosis with broad thumbs and toes		Proximal symphalangism
	Synonym(s): - Teunissen-Cremers syndrome		Synonym(s): - Symphalangism, Cushing type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic 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 - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536223

Proximal symphalangism
	Very frequent - Autosomal dominant inheritance - 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
Stapes ankylosis with broad thumbs and toes
(no data available)