Mowat–Wilson Syndrome
Mowat–Wilson syndrome is a rare autosomal dominant genetic disorder caused by mutations in the ZEB2 gene, leading to a complex phenotype including intellectual disability, distinct facial dysmorphology, Hirschsprung disease, and other congenital anomalies. It is a neurocristopathy, affecting the development of neural crest cells.
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Mowat–Wilson syndrome
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Frequently Asked Questions
What is Mowat–Wilson syndrome?+
It is a rare genetic condition that affects how a person grows and learns. It can cause intellectual disability, special facial features, and problems with the gut, heart, and other organs.
Why do people with Mowat–Wilson syndrome have special facial features?+
A mutation in the ZEB2 gene changes how face‑forming cells develop. This leads to a prominent forehead, broad nose, small chin, and short philtrum.
Can Mowat–Wilson syndrome be passed from parents to children?+
Yes, it is usually inherited in an autosomal dominant way, meaning one copy of the changed gene can cause the condition. Many cases also happen from new mutations that parents do not have.
What kind of medical problems can happen with Mowat–Wilson syndrome?+
People may have trouble learning, seizures, a colon problem called Hirschsprung disease, heart defects, kidney or bladder issues, and sometimes bone differences.
How do doctors help people with Mowat–Wilson syndrome?+
Doctors use a team of specialists to treat the specific problems, like giving therapies for learning, checking the heart and gut, and helping with daily life, so the person can grow and learn as much as possible.
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