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3 OMIM references -
3 associated genes
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
1 OMIM reference -
3 associated genes
6 signs/symptoms
Multiple synostoses syndrome
Brachydactyly type A2

FGF9 BMP2
GDF5 BMPR1B
NOG GDF5


COMMON
GENES
GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GDF5
NOG
(0.9)
(0.85)
BMPR1B
BMP2



Citations in the biomedical literature:


Multiple synostoses syndrome
FGF9 GDF5 NOG
Brachydactyly type A2
BMP2 BMPR1B



Multiple synostoses syndrome
Brachydactyly type A2

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

Synonym(s):
- Brachydactyly, Mohr-Wriedt type

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: <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 -
1 MeSH reference: C537089


COMMON
SIGNS
- Autosomal dominant inheritance
- Short hand / brachydactyly


Multiple synostoses syndrome
Brachydactyly type A2

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


Frequent
- Clinodactyly of fifth finger
- Short foot / brachydactyly of toes

Occasional
- Metacarpal anomalies / Archibald's sign
- Terminal / third phalangeal bone of fingers hypoplasia