parastremmatic dwarfism
MONDO:0008196
Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
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Parastremmatic dwarfism
Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term parastremmatic from the Greek parastremma, or distorted limbs, to describe it. On X-rays, the disease is distinguished by a "flocky" or lace-like appearance to the bones. The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the TRPV4 gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.