Learn About Rare Disease >    Mowat-Wilson Syndrome

Mowat-Wilson Syndrome

Mowat-Wilson syndrome (MWS) is a rare neurodevelopmental disorder characterized by developmental delays, distinct facial features, seizures, and gastrointestinal disorders. Patients typically present with a happy disposition and a smiling open-mouthed expression.

Key characteristics and symptoms of Mowat-Wilson syndrome

KEY CHARACTERISTICS

Distinct facial features: MWS patients have similar facial distinctions that include a square-shaped face, deep set and widely spaced eyes, a prominent and pointed chin, a broad nasal tip, large and flaring eyebrows, and uplifted earlobes.

Developmental delays: Sitting, crawling, and walking is significantly delayed in MWS patients. All patients with MWS develop some degree of intellectual disability and most will be severe.

OTHER COMMON SYMPTOMS

  • Seizures
  • Heart defects
  • Intestinal disorders
  • Eye problems

How is Mowat-Wilson syndrome diagnosed?

A diagnosis of MWS can be made based on symptoms but can be confirmed through genetic testing that identifies a mutation in the ZEB2 gene.

How is Mowat-Wilson syndrome treated?

Currently there is no cure for MWS. Patients are treated for their symptoms, not for the underlying cause of the disease. Medications and therapies can be used to alleviate symptoms. MWS advocacy groups are working to collect patient data so researchers may analyze the findings and a cure may be found.

AmbitCare can help you understand how rare disease might be part of your story.

The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.

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Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at info@ambitinc.com today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.