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1 OMIM reference -
1 associated gene
15 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
3 OMIM references -
3 associated genes
10 signs/symptoms
Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome

GDF5 FGF9
GDF5
NOG


COMMON
GENES
GDF5



Citations in the biomedical literature:


Fibular aplasia - complex brachydactyly
GDF5
Multiple synostoses syndrome
FGF9 NOG



Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome

Synonym(s):
- Du Pan syndrome

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

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

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

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

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


COMMON
SIGNS
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Simian crease / transverse / unique palmar crease


Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome

Very frequent
- Autosomal recessive inheritance
- Carpal bones fusion / synostosis
- Epiphyseal anomaly
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Narrow nasal bridge
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Tarsal anomaly / fusion / synostosis
- Thumb anomalies (excluding hypoplasia)
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray



Very frequent
- Autosomal dominant inheritance
- Conductive deafness / hearing loss
- Symphalangy of fingers

Frequent
- Broad / bifid thumb
- Cone epiphyses / epiphysis

Occasional
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Nails anomalies