Mowat-Wilson Syndrome (MWS)

What is Mowat-Wilson Syndrome (MWS)?

Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.Management is difficult and relies on total parenteral nutrition.

What are the symptoms of Mowat-Wilson Syndrome (MWS)?

Most people with MWS have a severe intellectual disability, though a small number have milder features and only moderate intellectual disability.

People who have MWS typically have a distinctive facial appearance: a square-shaped face with deep-set, widely spaced eyes – and an unusually small head.

They also have absent or severely limited speech, a significant degree of intellectual disability and often have seizures.

Some physical problems may present at birth or infancy. These include the intestinal disorder Hirschsprung disease in about half, problems with development of the kidneys and male genitalia (hypospadias), congenital heart defects, eye problems and absence of the area of the brain which connects the two cerebral hemispheres (agenesis of the corpus callosum).

What causes Mowat-Wilson Syndrome (MWS)?

MWS is caused by a mutation in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein needed for proper formation of many organs and tissues before birth. Researchers believe that the ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs.

How is Mowat-Wilson Syndrome (MWS) diagnosed?

MWS is usually diagnosed during infancy or childhood, based upon a thorough clinical evaluation, identification of characteristic physical findings and facial appearance, and information from a variety of specialized tests. Many of these features become more pronounced with time and so the diagnosis is easier to make in older individuals.

What are the treatments for Mowat-Wilson Syndrome (MWS)?

In MWS, associated conditions including Hirschsprung disease, heart abnormalities and seizures require intervention of relevant specialists, such as neurologists, cardiologists, and surgeons.

Physical therapy, occupational therapy and speech therapy may all be useful in helping children with developmental delay reach their full potential.

Where can I find out more about Mowat-Wilson Syndrome (MWS)?