Mowat-Wilson Syndrome

What is Mowat-Wilson syndrome?

Mowat-Wilson syndrome is a rare, genetic disorder that impacts various bodily systems. While the incidence of this condition is unknown, over 200 cases have been reported in medical literature.

What are the symptoms of Mowat-Wilson syndrome?

The symptoms of this rare condition can vary between affected individuals. Not every patient will experience every single symptom listed. Possible effects of Mowat-Wilson syndrome include:

Distinctive facial features
- This includes a square-shaped face, widely-spaced/deep-set eyes, pointed chin, broad nasal bridge, flaring eyebrows, and uplifted/dimpled earlobes
- Affected individuals are often smiling, and this is paired with a friendly and happy personality
Microcephaly
Moderate to severe intellectual disability
Little to no speech
Delayed development of motor skills (e.g., walking, standing, sitting)
Structural brian abnormalities
Hirschsprung disease
- This results in an enlarged colon, intestinal blockage, and severe constipation
Seizures
Short stature
Heart defects
Constipation
Differences in pigmentation
Abnormalities within the urinary tract

What causes Mowat-Wilson syndrome?

A mutated ZEB2 gene is responsible for Mowat-Wilson syndrome, as it is necessary for a specific type of protein called a transcription factor. Essentially, this protein is needed to control certain genes. When it is mutated, this protein cannot function properly, therefore altering the development of various tissues and organs throughout the body. This condition is inherited in an autosomal dominant pattern.

How is Mowat-Wilson syndrome diagnosed?

Affected individuals are typically diagnosed between infancy and childhood. Doctors will notice the characteristic symptoms, perform a clinical evaluation, and perform numerous tests. They may utilize CT scans, MRIs, and ultrasounds. Molecular genetic testing may be used to confirm a diagnosis.

What are the treatments for Mowat-Wilson syndrome?

Treatment is symptomatic and often requires a multidisciplinary team to provide the best care.

Where can I find out more about Mowat-Wilson syndrome?