Chondrodysplasia (dwarfism)
Chondrodysplasia is associated with defects in enchondral ossification and proliferation of... more
Заболевание
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.
Тип наследования
autosomal recessive
Длительность теста
1-2 weeks after arrival of the sample in the lab
