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What is Mowat-Wilson Syndrome?

Feb 01st, 2024 | by Pauline Chuang

Pauline Chuang

February 01st, 2024

What is Mowat-Wilson Syndrome?

Mowat-Wilson syndrome is a rare genetic disorder that may be apparent at birth or later in childhood. This condition occurs approximately 1 in 50,000 to 100,000 births and affects both females and males equally. Mowat-Wilson Syndrome was discovered in 1998 by Dr. David Mowat and Dr. Meredith Wilson.

What is the Cause of Mowat-Wilson Syndrome?

This condition is caused by mutations or deletions in the ZEB2 gene on chromosome 2q22. This change occurs by chance and it is not hereditary.

What Are Some Common Features of Mowat-Wilson Syndrome?

  • Distinctive facial features (i.e., widely spaced eyes, eyebrows with a medial flare, pointed chin, and open mouth expression)
  • Global developmental delay
  • Intellectual disability (ranging from moderate to severe)
  • Short stature
  • Delayed development
  • Hirschsprung disease (a condition that affects the large intestine and causes difficulty in passing stool)
  • Seizures
  • Congenital heart defects

What Are Some Treatment Options for Mowat-Wilson Syndrome?

There is currently no cure for Mowat-Wilson Syndrome. However, an individualised and multidisciplinary approach will help a child reach their fullest potential. Physiotherapy may focus on improving mobility, motor planning, muscular strength, and coordination. Occupational therapy may target improving upper limb strength, upper extremity function, and posture to support activities of daily living, such as dressing. Speech and language pathology may support with increasing speech intelligibility (i.e., ability to be understood), and developing expressive (i.e., using) and receptive (i.e., understanding) language.

About the Author

As a creative and dedicated physiotherapist, Pauline always strives to create a supportive environment for kids to develop the confidence and competence to reach their goals. She believes in making therapy fun, interactive, and individualised so that it is enjoyable and meaningful to each child. You can spot Pauline at NAPA with the biggest smile, colorful socks, and contagious enthusiasm & positivity.

About NAPA Centre 

Learn about Mowat-Wilson syndrome and therapy options at NAPA Centre Australia. NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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