Parastremmatic dysplasia

Parastremmatic dysplasia (also known as parastremmatic dwarfism) is an extremely rare skeletal dysplasia characterized by severe dwarfism with distortion and twisting of the bones, particularly affecting the long bones, spine, and pelvis. The name derives from the Greek word 'parastremma,' meaning distortion or twisting. This condition is present from birth and becomes progressively apparent during childhood as skeletal deformities worsen. The hallmark features of parastremmatic dysplasia include severe short stature (dwarfism), kyphoscoliosis (abnormal curvature of the spine), bowing and twisting of the limbs, and contractures of major joints. Radiographic findings are distinctive and include irregular, dense areas of bone (sclerotic changes) alongside areas of decreased bone density, giving a characteristic mottled appearance. The long bones show severe metaphyseal and diaphyseal distortion. The vertebral bodies are flattened (platyspondyly) and irregular. Affected individuals may also experience restricted joint mobility and significant skeletal pain. Parastremmatic dysplasia has been associated with mutations in the TRPV4 gene, which encodes a calcium-permeable ion channel involved in bone development and homeostasis. There is currently no cure or disease-specific treatment. Management is supportive and symptomatic, focusing on orthopedic interventions to address skeletal deformities, physical therapy to maintain mobility, pain management, and monitoring for potential complications. Surgical correction of severe bowing or spinal deformities may be considered in some cases.

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