Schmid metaphyseal chondrodysplasia

Schmid metaphyseal chondrodysplasia is a rare skeletal disorder that affects the growth and development of bones. It is characterized by moderately short stature, short limbs, a decrease in the angle of the hip (coxa vara), bowlegs, and an abnormal gait. This condition is a part of a group of disorders that impact the structure of the bones, particularly at the ends (metaphyses) where growth occurs. The disorder is linked to changes in a specific gene called COL10A1. Although the genetic variation causing the condition has been identified, research is ongoing to better understand the full range of symptoms and long-term outcomes for people with this condition.

People with Schmid metaphyseal chondrodysplasia often have a moderately short stature along with shortened limbs. Other common signs include bowlegs, an abnormal walking pattern, and hip issues such as coxa vara. These features are the main physical symptoms that can be observed in this disorder.

This condition is caused by a change in the COL10A1 gene. Variations in this gene affect how cartilage develops and turns into bone. As a result, abnormalities in bone growth occur, leading to the features seen in Schmid metaphyseal chondrodysplasia.

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.