Skip to main content

Posts

Showing posts with the label intellectual disability

What is Mowat-Wilson Syndrome?

 Introduction  Mowat-Wilson Syndrome (MWS) is a rare genetic disorder characterized by a range of physical, intellectual, and developmental features. It is often associated with distinctive facial features, intellectual disability, delayed speech, and various health complications. The condition is caused by mutations in the ZEB2 gene (previously known as SIP1 gene), which plays a crucial role in the development of the brain, face, and other parts of the body.  Key Features and Symptoms of Mowat-Wilson Syndrome: Mowat-Wilson Syndrome presents a wide variety of symptoms, and the severity can vary significantly from one individual to another. Some of the most common features include: 1. Facial Features: Distinctive facial appearance: People with MWS often have a characteristic facial appearance, which may include a broad forehead, wideset eyes, a small chin, a pointed or prominent nose, and full lips. Epicanthal folds: These are small skin folds at the inner corners of the eyes. 2. Intell