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Mowat-Wilson syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Mowat-Wilson syndrome

Mowat-Wilson syndrome is a genetic condition characterized by distinctive facial features, intellectual disability, delayed development, and Hirschsprung disease.

Overview

Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

Symptoms

Facial Features

Children with Mowat-Wilson syndrome have a square-shaped face with deep-set eyes. Other features include:

  • A nasal bridge with a rounded nasal tip
  • A prominent and pointed chin
  • Large, flaring eyebrows
  • Uplifted earlobes with a dimple in the middle

These features become more distinctive with age. Adults often have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected individuals typically have a smiling, open-mouthed expression and friendly personalities.

Developmental and Physical Features

  • Neurological: Unusually small head (microcephaly), structural brain abnormalities, and moderate to severe intellectual disability.
  • Communication: Speech is absent or severely impaired, though many can understand speech and some use sign language.
  • Motor Skills: Delayed development of skills such as sitting, standing, and walking.
  • Intestinal: Hirschsprung disease, causing severe constipation, intestinal blockage, and enlargement of the colon.
  • Other: Short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia.

Causes

Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that acts as a transcription factor, helping control the activity of genes involved in the development of the nervous system, digestive tract, facial features, and heart.

The syndrome almost always results from a loss of one working copy of the ZEB2 gene. A shortage of this protein disrupts the normal development of many organs and tissues.

Inheritance

This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Frequently Asked Questions

Early intervention with a multidisciplinary team is key. Augmentative and alternative communication (AAC) devices—such as picture exchange systems or speech‑generating tablets—can be introduced as early as 12‑18 months. Speech‑language pathologists also teach sign language, facial expression reading, and oral‑motor exercises to maximize any residual speech ability. Consistent use of the chosen communication method at home and school improves comprehension and reduces frustration.
dults should have annual cardiac evaluation (echocardiogram if a congenital defect was previously identified), renal and urinary tract ultrasound every 2–3 years, and seizure surveillance with EEG if a history of seizures exists. Bone health should be assessed with a DEXA scan every 5 years because short stature and limited mobility increase osteoporosis risk. Regular neuropsychological follow‑up helps tailor educational and vocational support throughout adulthood.
clinical suspicion is confirmed by sequencing the ZEB2 gene (either targeted panel or whole‑exome sequencing). The test looks for loss‑of‑function variants, most commonly a single‑base deletion, nonsense mutation, or a larger deletion of one copy of the gene. Results are usually reported within 2–4 weeks, and a genetic counselor should review the findings with the family.
Persistent abdominal distension, failure to pass meconium within the first 48 hours, vomiting (especially bilious), and chronic constipation despite standard laxatives are red flags. A contrast enema or anorectal manometry can identify the aganglionic segment, and definitive treatment is surgical resection of the affected bowel.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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