Kniest dysplasia

Kniest dysplasia is a rare bone disorder that affects the development of cartilage and bone. It is caused by issues related to type 2 collagen, a protein important for forming cartilage. People with this condition may experience bone abnormalities from an early age. The disorder is marked by a disruption in normal bone growth, leading to a condition called chondrodysplasia. This results in shorter than average stature and changes in the long bones, including features like large epiphyses and a dumbbell shape in the long bones. Joints may appear more prominent and have restricted mobility, which can affect overall movement.

People with Kniest dysplasia often present with disproportionate short stature that begins before birth. They may have prominent joints, limited mobility in those joints, and characteristic changes in their long bones such as the dumbbell deformity and enlarged ends of the bones.

Kniest dysplasia is related to changes in type 2 collagen, which is essential for the development of cartilage and bone. The condition is linked to mutations in the COL2A1 gene. This genetic change affects how type 2 collagen is made, leading to the bone and cartilage abnormalities seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.