Mowat-Wilson Syndrome

What is Mowat-Wilson Syndrome?

This is a syndrome also known as MWS that consists of a group of birth defects occurring together and that could be apparent at birth or in the 1st year of life. These defects are triggered by heterozygous deletions or mutations of the gene known as ZFHX1B or ZEB2 located on chromosome 2. The rate of occurrence is not known. As of 2007, only 171 subjects have been described in the medical literature as having this syndrome. Among these individuals, both females and males are affected from diverse ethnic groups.

This rare disorder was first clinically described by Dr. M.J. Wilson and Dr. D.R. Mowat in 1998.

Mowat-Wilson Syndrome Symptoms

Symptoms and signs of this syndrome consist of:

  • Facial features that are distinctive with prominent but narrow and triangular pointed chin, widely spaced eyes (hypertelorism), uplifted earlobes with a central depression and large broad eyebrows
  • Moderate to severe mental retardation
  • Delayed development and growth, severe speech impediment
  • Small head (microcephaly)
  • Seizures
  • Congenital heart disease
  • Birth defects of the urinary and genitals system, particular hypospadias in males
  • Hypogenesis or agenesis of the corpus callosum of the brain
  • Slender built, with tapering and slender fingers
  • Eye defects such as small eyes (microphthalmia)

Mowat-Wilson Syndrome Causes

MWS is triggered by deletions or mutations affecting the ZEB2 gene on chromosome # 2. This triggers a protein which regulates the accomplishment of other genes, many that are intricate with development. But, some of the development affected by this condition does not have anomalies of this gene that can be detectable currently.

This syndrome is genetic and is passed on with an “autosomal dominant pattern” meaning one (1) copy of the gene that is altered in each cell is adequate to cause the MWS. The majority of cases are caused by mutations that are new in the gene and occur in individuals with no family history of this condition.

Mowat-Wilson Syndrome Treatment

Medical literature simply says that there is no cure for MWS. Treatment is symptomatic and supportive. All children with MWS need early intervention with speech therapy and physical therapy.

There are support groups on the internet. One support group offered a Multilevel Approach in the treatment and management of MWS. They believe that this key factor of Multilevel Approach makes a large difference in the child’s mental, emotional and physical development.

Emotional approach – this is the first type of approach and it is suggested that with a child who has MWS needs to have supportive parents who behave and talk to their child in a matter to start building the child up emotionally. This involves praise for little things that the child achieves so the child will begin to believe in their own ability to be successful. This part of the multilevel approach builds the child’s self-esteem so as to make development as attractive as possible.


Biomedical approach is this 2nd part of this approach involving the following:

  • Digestive system – it is important to keep the intestinal tract healthy. This helps with the child’s behavior as well as brain improves in functioning. Eating habits and healthy diet can make such a difference. A very useful diet can be found at
  • Immune system – the child needs to be kept as healthy as possible by providing the child with:
  1. Amino acid – for cell functioning
  2. Omega 3 oils – helps keep brain healthy
  3. Proper sleep – work on some method of getting the child sleeping properly and well as being deprived of sleep can be torture for both the child and the parents or caregivers.
  4. Clean water is vital and most individuals do not drink enough water

Therapy approach – this includes one on one therapy with skilled early childhood interventionist, incorporating a variety of modalities such as speech therapy, occupational therapy, physical therapy, as well as behavior therapy.


Early molecular diagnosis is very practicable today and can be of abundant significance in order to begin the rehabitation and therapeutic treatment as quickly as possible. The assumption of MWS is significant also for the family, irrespective of the prognosis. In fact, the diagnosis authorities caregivers to get psychological and informational support and release the families from an intense feeling of solitude.

As the knowledge on this syndrome increases and supports the rehabilitation and educational aid for parents and caregivers, it helps the achieving of improvements in the in the psychomotor development as well as autonomy of the MWS patients.


The complications of MWS are really secondary symptoms, conditions, or other ailments that are caused by MWS. In many cases, the modification between symptoms of MWS and difficulties of MWS is arbitrary or very unclear.

The complications depend on the defects that each individual has as each patient of MWS is different in the defects and the extent of the defects.

Life Expectancy

There is very little data about the survival of patients affected with MWS. The oldest known patient reported so far is 30 years old.

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