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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Juvenile polyposis of infancy

1 OMIM reference -
2 associated genes
No signs/symptoms info

Multiple synostoses syndrome

Juvenile polyposis of infancy

FGF9	(UniProt - OMIM)		BMPR1A	(UniProt - OMIM)
GDF5	(UniProt - OMIM)		PTEN	(UniProt - OMIM)
NOG	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GDF5	(0.89)	BMPR1A

Citations in the biomedical literature:

Multiple synostoses syndrome		Juvenile polyposis of infancy
	Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome		Synonym(s): - Infantile juvenile polyposis syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

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

Multiple synostoses syndrome
	Very frequent - Autosomal dominant inheritance - Conductive deafness / hearing loss - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Symphalangy of fingers Frequent - Broad / bifid thumb - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies
Juvenile polyposis of infancy
(no data available)