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Autosomal dominant brachyolmia
1 OMIM reference -
1 associated gene
11 connected diseases
8 signs/symptoms
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant congenital benign spinal muscular atrophy
Familial digital arthropathy-brachydactyly
Metatropic dysplasia
Parastremmatic dwarfism
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Syndromic multisystem autoimmune disease due to Itch deficiency
Severe combined immunodeficiency due to LCK deficiency
Catecholaminergic polymorphic ventricular tachycardia
Hereditary cerebral cavernous malformation
Synonym(s):
- Brachyolmia type 3
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Gene symbol UniProt reference OMIM reference
TRPV4 Q9HBA0605427
Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Kyphosis
- Platyspondyly
- Scoliosis
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Occasional
- Metaphyseal anomaly