Chondrodysplasia (dwarfism)

Chondrodysplasia is associated with defects in enchondral ossification and proliferation of... more
Disease
Chondrodysplasia is a genetical inherited skeletal dysplasia with a defect in endochondral ossification. The physiological process of bone-growth is disrupted by a mutation of a gene. Consequently, defects in tubular bones and dwarfism emerge due to the lack of proliferation of cartilage. In addition to shortened limbs, clinical symptoms comprise of a large skull, spine changes and deformations of the legs. The disease causes anatomical narrowing of the spinal canal and associated spinal stenosis in some cases.
Heredity
autosomal recessive
Test duration
1-2 weeks after arrival of the sample in the lab
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