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Proximal symphalangism

2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 3

Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

Proximal symphalangism

Multiple synostoses syndrome

GDF5	(UniProt - OMIM)		FGF9	(UniProt - OMIM)
NOG	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
			NOG	(UniProt - OMIM)


COMMON GENES	GDF5 NOG

Citations in the biomedical literature:

Proximal symphalangism		Multiple synostoses syndrome
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome

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

	External references: 2 OMIM references - 1 MeSH reference: C536223		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Short hand / brachydactyly - Symphalangy of fingers

Proximal symphalangism		Multiple synostoses syndrome
	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 - Metacarpal anomalies / Archibald's sign - Sensorineural deafness / hearing loss Occasional - Clinodactyly of fifth finger - Strabismus / squint - Syndactyly of fingers / interdigital palm - Wrist / carpal anomalies		Very frequent - Conductive deafness / hearing loss - Restricted joint mobility / joint stiffness / ankylosis Frequent - Broad / bifid thumb - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies