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1 OMIM reference -
1 associated gene
4 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Familial digital arthropathy-brachydactyly
Autosomal dominant brachyolmia

TRPV4 TRPV4


COMMON
GENES
TRPV4



Citations in the biomedical literature:


Familial digital arthropathy-brachydactyly
TRPV4
Autosomal dominant brachyolmia



Familial digital arthropathy-brachydactyly
Autosomal dominant brachyolmia

Synonym(s):
(no synonyms)

Synonym(s):
- Brachyolmia type 3

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: -
Average age onset: -
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


COMMON
SIGNS
- Autosomal dominant inheritance


Familial digital arthropathy-brachydactyly
Autosomal dominant brachyolmia

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



Very frequent
- Abnormal vertebral size / shape
- Kyphosis
- Platyspondyly
- Scoliosis
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Occasional
- Metaphyseal anomaly