SNP Shot: Genomic Insights

Mowat-Wilson syndrome is a genetic disorder impacting numerous bodily systems. Common characteristics include unique facial features, intellectual disability, developmental delays, Hirschsprung disease (an intestinal problem), and various congenital disabilities.

Children with Mowat-Wilson syndrome typically exhibit a square face shape with eyes that are deep-set and widely spaced. Distinctive features also involve a wide nasal bridge with a rounded tip, a prominent, pointed chin, large, arched eyebrows, and raised earlobes often with a central dimple. These facial characteristics become more pronounced as individuals age; adults with Mowat-Wilson syndrome often present with a long face, thick eyebrows, and a noticeable chin and jaw. Individuals often have a smiling, open-mouthed expression and are known for being friendly and cheerful.

A smaller than normal head size (microcephaly), structural brain differences, and intellectual disability, ranging from moderate to severe, are commonly linked to Mowat-Wilson syndrome. Speech abilities are often absent or greatly limited, with affected individuals potentially learning only a few words. However, many can comprehend the speech of others and some communicate using sign language. When speech does develop, it is delayed, often appearing in mid-childhood or later. Motor skill development, such as sitting, standing, and walking, is also delayed in children with this condition.

Hirschsprung disease, an intestinal condition causing severe constipation, intestinal obstruction, and colon enlargement, is present at birth in over half of individuals with Mowat-Wilson syndrome. Chronic constipation is also a frequent issue for those with the syndrome, even if they haven't been diagnosed with Hirschsprung disease.

Additional features associated with Mowat-Wilson syndrome can include short stature, seizures, heart conditions, and abnormalities affecting the urinary tract and reproductive organs. Less frequently, the syndrome can affect the eyes, teeth, hands, and skin pigmentation. It's important to note that while a broad spectrum of medical issues are associated with Mowat-Wilson syndrome, not all affected individuals will experience every feature.

Inheritance:

Mowat-Wilson syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the condition.