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3 OMIM references -
3 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Multiple synostoses syndrome
FGFR2-related bent bone dysplasia

FGF9 FGFR2
GDF5
NOG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF9
(0.62)
FGFR2



Citations in the biomedical literature:


Multiple synostoses syndrome
FGF9 GDF5 NOG
FGFR2-related bent bone dysplasia
FGFR2



Multiple synostoses syndrome
FGFR2-related bent bone dysplasia

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

Synonym(s):
- Perinatal lethal bent bone dysplasia

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):
(no data available)

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: -
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


FGFR2-related bent bone dysplasia

(no data available)