Mowat-Wilson Syndrome

WHAT IS MOWAT-WILSON SYNDROME (MWS)?

MWS is a rare condition characterised by abnormal facial features, learning disabilities and Hirschsprung disease (an illness of the large intestine).

Symptons may include:

• Growth and Motor development delay: speech can be delayed or absent;
• Seizures in the majority of individuals (Epilepsy);
• Failure to thrive in early life;
• Mild to moderate learning disability.

An individual with MWS may also have:

• Deep set, widely spaced eyes;
• Characteristic ear shape with a turned-up ear lobe;
• Broad nasal tip and short philtrum (the vertical central groove from the nose to the upper lip);
• Small open mouth with a highly arched palate;
• Prominent chin.

Other features can include: congenital heart disease, cleft lip and/or palate, eye anomalies and white patches on the skin.

WHAT IS THE CAUSE OF MWS?

MWS is thought to be genetic in nature. The majority of individuals with MWS have a mutation or deletion of a particular gene. However it is possible for individuals with the condition to have a different genetic basis for their condition.

WHAT IS THE TREATMENT?

MWS cannot be cured but the individual symptoms can be treated. Educational intervention and speech and language therapy from infancy are also recommended.

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