Living with Mowat-Wilson syndrome
A genetic condition with distinctive facial features, intellectual disability, delayed development, and often a bowel condition called Hirschsprung disease.
Understanding Mowat-Wilson syndrome
Children have a square-shaped face with deep-set, widely spaced eyes and a pointed chin. Features become more distinctive with age. Many have a smiling, friendly expression. Intellectual disability ranges from moderate to severe, and speech is absent or very limited, though many understand others and some use sign language. More than half have Hirschsprung disease, which causes severe constipation and a blocked intestine. A small head and brain differences are common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Distinctive facial features
- Delayed development and delayed walking
- Smaller-than-average head size (microcephaly)
- Heart differences
- Missing corpus callosum
- Sleep difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ZEB2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Mowat-Wilson Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the ZEB2 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: hirschsprung disease intellectual disability syndrome; hirschsprung disease-intellectual disability syndrome; microcephaly, intellectual disability, and distinct facial featrues, with or without hirschprung disease; mows
Patient organizations
- Mowat-Wilson Syndrome FoundationMowat-Wilson syndrome · United States
- Pull-thru NetworkMowat-Wilson syndrome · United States
- REACHMowat-Wilson syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Mowat-Wilson syndrome.
Explore research for Mowat-Wilson syndrome
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