What is Léri-weill Dyschondrosteosis

Léri-Weill Dyschondrosteosis (LWD) is a rare genetic disorder that affects bone growth and development. It is characterized by short stature and skeletal abnormalities, particularly in the bones of the forearms and lower legs. LWD primarily affects females, although males can also be affected, albeit with milder symptoms.

One of the key features of Léri-Weill Dyschondrosteosis is the presence of Madelung deformity, which refers to the abnormal growth of the radius and ulna bones in the forearm. This can lead to wrist pain, limited range of motion, and an abnormal appearance of the wrist joint.

Short stature is another characteristic of LWD, with affected individuals typically being shorter than their peers. Additionally, individuals with LWD may have bowed lower legs, a condition known as mesomelic leg bowing.

LWD is caused by mutations in the SHOX gene, which plays a crucial role in bone growth and development. The inheritance pattern of LWD is autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to their children.

Diagnosis of Léri-Weill Dyschondrosteosis is typically based on clinical evaluation, X-rays, and genetic testing. While there is no cure for LWD, management focuses on addressing the specific symptoms and may involve physical therapy, orthopedic interventions, and growth hormone therapy in some cases.