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3 OMIM references -
3 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
20 signs/symptoms
Multiple synostoses syndrome
Osteoglophonic dwarfism

FGF9 FGFR1
GDF5
NOG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF9
(0.55)
FGFR1



Citations in the biomedical literature:


Multiple synostoses syndrome
FGF9 GDF5 NOG
Osteoglophonic dwarfism
FGFR1



Multiple synostoses syndrome
Osteoglophonic dwarfism

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:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536050


COMMON
SIGNS
- Autosomal dominant inheritance
- Short hand / brachydactyly


Multiple synostoses syndrome
Osteoglophonic dwarfism

Very frequent
- Conductive deafness / hearing loss
- Restricted joint mobility / joint stiffness / ankylosis
- 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


Very frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Craniostenosis / craniosynostosis / sutural synostosis
- Hypertelorism
- Short stature / dwarfism / nanism

Frequent
- Anteverted nares / nostrils
- Clavicle absent / abnormal
- Delayed bone age
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Rhizomelic micromelia

Occasional
- Abnormal / absent ossification
- Choanal atresia
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Scoliosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes