Mowat-Wilson syndrome (MOWS)

What is Mowat-Wilson syndrome (MOWS)?

Mowat-Wilson syndrome is a genetic disorder that often presents with Hirschsprung disease, which is an intestinal disorder.

Intellectual disability, delayed mental and motor development, as well as a wide variety of neurocristopathies (abnormalities of cells derived from the embryonic cellular structure known as neural crest) are frequently found in this syndrome.

What gene changes cause Mowat-Wilson syndrome (MOWS)?

The syndrome is caused by mutations in the ZEB2 gene. The majority of cases of this rare disease are due to a new gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Mowat-Wilson syndrome (MOWS)?

The main symptoms of the syndrome are global developmental delay including intellectual disability and delayed motor development. Individuals develop very limited, or no speech although their verbal reasoning is usually better than their actual ability to speak. Individuals with the syndrome are also often characterized by their happy personality.

Hirschsprung disease, and intestinal health issues are a major symptom of the syndrome and these issues can cause chronic constipation.

Physical features of the syndrome include a short stature, extremely small heads, low muscle tone, distinctive eyebrows which are thicker in the center, uplifted earlobes, misaligned, deep set eyes, a broad nasal bridge and pointed nose tip.

Other health conditions associated with the syndrome may include congenital heart defects, as well as seizures and epilepsy.

How does someone get tested for Mowat-Wilson syndrome (MOWS)?

The initial testing for Mowat-Wilson syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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