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1 OMIM reference -
1 associated gene
7 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Severe achondroplasia - developmental delay - acanthosis nigricans
Camptodactyly - tall stature - scoliosis - hearing loss

FGFR3 FGFR3


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Severe achondroplasia - developmental delay - acanthosis nigricans
FGFR3
Camptodactyly - tall stature - scoliosis - hearing loss



Severe achondroplasia - developmental delay - acanthosis nigricans
Camptodactyly - tall stature - scoliosis - hearing loss

Synonym(s):
- SADDAN

Synonym(s):
- CATSHL syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin 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: no data available
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
No MeSH references

Severe achondroplasia - developmental delay - acanthosis nigricans
Camptodactyly - tall stature - scoliosis - hearing loss

Very frequent
- Anomalies of bones / skeletal anomalies
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Clavicle absent / abnormal
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly



Very frequent
- Camptodactyly of fingers
- Hearing loss / hypoacusia / deafness
- Scoliosis
- Tall stature / gigantism / growth acceleration