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1 OMIM reference -
1 associated gene
4 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial digital arthropathy-brachydactyly
Spondyloepiphyseal dysplasia, Maroteaux type

TRPV4 TRPV4


COMMON
GENES
TRPV4



Citations in the biomedical literature:


Familial digital arthropathy-brachydactyly
TRPV4
Spondyloepiphyseal dysplasia, Maroteaux type



Familial digital arthropathy-brachydactyly
Spondyloepiphyseal dysplasia, Maroteaux type

Synonym(s):
(no synonyms)

Synonym(s):
- Pseudo-Morquio syndrome type 2

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

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
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: sporadic

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

Familial digital arthropathy-brachydactyly

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Autosomal dominant inheritance
- Irregular length / shape of fingers
- Short hand / brachydactyly



Spondyloepiphyseal dysplasia, Maroteaux type

(no data available)