How is Mowat-Wilson Syndrome Diagnosed?

A Step-by-Step Guide to Mowat-Wilson Diagnosis

Mowat-Wilson Syndrome (MWS) is a rare autosomal dominant disorder that is characterized by distinct facial appearance, intellectual disability, and other congenital malformations. While the syndrome may not be prevalent, prompt diagnosis with precision is essential to obtain proper medical care and developmental therapy.

Nonetheless, due to its rarity and overlap with other diseases, it can be challenging to diagnose MWS solely with simple tests. Let’s learn how the diagnostic process for MWS typically unfolds.

What causes Mowat-Wilson Syndrome?

Mowat-Wilson Syndrome results from mutations or deletions of the ZEB2 gene (originally designated as ZFHX1 B) at locus 2q22. The gene encodes for a protein that is crucial in the development of numerous body systems, among them being the nervous, digestive, and facial structures.

The majority of cases of MWS are caused by new (de novo) mutations, and therefore, they occur singly without being passed down from parents. In extremely rare instances, though, the condition is hereditary in an autosomal dominant manner if one of the parents has the mutation.

What are the Early Signs of Mowat-Wilson Syndrome diagnosis?

MWS is usually suspected in infancy or early childhood when some of the physical characteristics and delayed development become apparent. Some of the initial indications that need to be investigated are:

• Atypical facial appearance, such as a  wide nasal bridge, deep-set eyes, high-riding earlobes, and an open-mouth appearance
• Severe developmental delay or mental retardation
• Congenital heart defects
• Hirschsprung disease (colon disorder)
• Seizures or epilepsy
• Genitourinary tract defects in males

If a pediatrician identifies several such signs, they can refer the child to a geneticist for further medical evaluation.

What Tests are Used to Confirm Mowat-Wilson Syndrome?

Diagnosis of MWS is established mainly through genetic testing, which identifies mutations in the gene ZEB2, responsible for the syndrome. The following are primarily used:

• Single gene testing:  This test specifically looks for mutations in the ZEB2 gene.
• Multigene panel : This involves testing multiple genes at once, useful when symptoms overlap with other syndromes.
• Chromosomal microarray analysis : Detects more widespread genetic changes, including deletions, that could involve the ZEB2 gene.
• Whole-exome sequencing (WES) : This is a more comprehensive test examining all protein-coding genes, helpful in complicated or ambiguous cases.

All of these tests may be done on blood or saliva specimens and are interpreted by trained and certified genetic professionals.

At What Age is Mowat-Wilson Syndrome Typically Diagnosed?

Mowat-Wilson Syndrome is typically diagnosed in infancy (6–12 months) when hallmark facial features (e.g., hypertelorism, pointed chin) and developmental delays become apparent. In cases with milder symptoms or where access to genetic testing is delayed, diagnosis may occur later.

Can Prenatal Testing Detect Mowat-Wilson Syndrome?

Yes, in certain situations, prenatal diagnosis can be achieved to detect Mowat-Wilson Syndrome. If there is a family history of MWS or if ultrasound during pregnancy is abnormal, physicians may advise other genetic testing, like:

• Chorionic villus sampling (CVS)
• Amniocentesis

These procedures can enable the testing of fetal DNA to detect mutations of the ZEB2 gene. As the condition is rare, routine prenatal screening for MWS is not generally done.

Why is Early Diagnosis Important for Managing Mowat-Wilson Syndrome?

Early diagnosis paves the way to a multidisciplinary care approach, which can greatly enhance quality of life. A few of the timely interventions are:

• Speech and occupational therapy
• Surgical correction of heart or gastrointestinal defects
• Control of seizures
• Special education programs

A confirmed diagnosis also gives parents clear information about long-term prognosis and the availability of genetic counseling for future pregnancies.

Does Health Insurance Cover the Cost of Mowat-Wilson Syndrome Diagnosis?

The expense of specialist consultation and genetic tests may be staggering. Fortunately, many comprehensive health insurance plans, including those from Star Health Insurance, may cover these treatment costs and diagnostic tests under the terms of the policy.

Star Health Insurance provides policies to treat congenital disorders and pays for hospitalization, therapies, and consultation. It's advisable to review your policy or speak with an insurance advisor to understand the scope of coverage.

What Should Parents do if They Suspect Mowat-Wilson Syndrome?

If you are in doubt that your child has MWS, refer to your pediatrician and ask them to refer you to a clinical geneticist. A detailed developmental history, symptoms, and family history are helpful to make an early clinical impression.

In addition, you may also refer to support groups for rare diseases to offer emotional support and access to resources that can aid your child’s development.

An accurate diagnosis of Mowat-Wilson Syndrome is based on clinical assessment and genetic analysis. Early symptoms can arouse suspicion but need to be confirmed with specific testing for the ZEB2 gene.

With early intervention and access to proper medical facilities, some of which may be included in well-planned healthcare policies like those offered by Star Health Insurance, such affected children can receive the support they need for better developmental outcomes.

Mowat-Wilson Syndrome (MWS) Treatment

There is no cure for Mowat-Wilson Syndrome (MWS), but the treatment concentrates on managing symptoms and enhancing life quality through quicker intervention and a multidisciplinary team of specialists. Treatment plans are individualised and they include medical management of risks such as congenital heart disease, seizures, and Hirschsprung disease, which often need surgery :

Medical Management

1. Congenital Heart Defects and Hirschsprung Disease : Hirschsprung disease often presents in the newborn period and typically requires surgical intervention within the first days or weeks of life. Congenital heart defects vary in severity; critical defects require surgery in early infancy, while others may be managed medically or repaired later in childhood.
2. Seizures : Seizures are managed with standard anti-epileptic medications. Behavioral problems may be addressed with behavioral strategies and, in some cases, medications such as second-generation antipsychotics 
3. Genitourinary and Musculoskeletal Anomalies : These might need specialised care from a surgeon or orthopaedic specialist, respectively.

Therapeutic Interventions

1. Physiotherapy : Concentrates on improving motor planning, mobility, strength, and coordination.
2. Occupational Therapy : This targets to improve upper body strength, posture, and the functional skills required for daily activities.
3. Speech and Language Pathology : This helps enhance speech intelligibility, receptive language skills and expressive language skills.
4. Educational Intervention : Early educational support and intervention are important to maximise developmental potential.

Ongoing Care and Surveillance

1. Regular Physician Visits : Annual check-ups with an adult physician or a paediatrician are recommended to check the general health, growth, and development.
2. Specialist Care : A team of specialists, like gastroenterologists, cardiologists, neurologists, and geneticists, might be required based on the individual's particular organ involvement.
3. Eye Examinations : Yearly eye exams during childhood are essential to check conditions such as strabismus and refractive errors.

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