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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Brachydactyly type B2

1 OMIM reference -
1 associated gene
9 signs/symptoms

Multiple synostoses syndrome

Brachydactyly type B2

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


COMMON GENES	NOG

Citations in the biomedical literature:

Multiple synostoses syndrome		Brachydactyly type B2
	Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - 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: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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


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

Multiple synostoses syndrome		Brachydactyly type B2
	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		Very frequent - Absent / small fingernails / anonychia of hands - Distal phalangeal bones of toes hypoplasia / absence - Short foot / brachydactyly of toes - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Carpal bones fusion / synostosis - Syndactyly of fingers / interdigital palm