Chondrodysplasia
Chondrodysplasia is a group of genetic disorders that affect the development of cartilage and bone, leading to abnormal growth patterns. This condition often results in short stature and disproportionate body features, such as shorter limbs compared to the torso. It can occur in various forms, with some being more severe than others.
The most common type of chondrodysplasia is achondroplasia, which is characterized by a specific mutation in the FGFR3 gene. Diagnosis typically involves physical examination and imaging studies, while treatment focuses on managing symptoms and complications, as there is no cure for the condition.