What is Marden Walker Syndrome

Marden-Walker syndrome, also known as MWS, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of distinctive facial features, joint contractures, and developmental delays.

Facial features: Individuals with Marden-Walker syndrome often have a unique facial appearance, including a small mouth, a flat nasal bridge, widely spaced eyes, and a high forehead.

Joint contractures: Joint contractures refer to the limited range of motion in certain joints, leading to stiffness and restricted movement. This can affect various joints in the body, such as the elbows, knees, and fingers.

Developmental delays: Children with MWS may experience delays in reaching developmental milestones, such as sitting, crawling, and walking. Intellectual disability is also common in individuals with this syndrome.

Other features of Marden-Walker syndrome may include muscle weakness, respiratory problems, and eye abnormalities. The severity of symptoms can vary widely among affected individuals.

MWS is caused by mutations in certain genes, although the exact genetic basis is not fully understood. Treatment for Marden-Walker syndrome focuses on managing the symptoms and providing supportive care to improve quality of life.