Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000-100,000 births.

Presentation

This

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

disorder is characterized by a number of health defects including Hirschsprung disease, intellectual disability, epilepsy, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. However, Hirschsprung's disease is not present in all infants with Mowat–Wilson syndrome and therefore it is not a required diagnostic criterion.Todo A, Harrington JW
New-onset seizures in infant with square facies, hypospadias, and Hirschsprung disease
Consultant for Pediatricians. 2010;9:103-107. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with central depression, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum. People with this condition have severe intellectual disability in almost all cases; however, a small minority have moderate intellectual disability. Speech is typically limited or absent. Many of those with Mowat–Wilson syndrome also have a distinctive open mouthed, smiling expression and friendly personalities.

Causes

The disorder is expressed in an

fashion and may result from a '' de novo'' loss of function mutation or total deletion of the '' ZEB2'' gene located on chromosome 2q22.

Diagnosis

Mowat–Wilson syndrome (MWS) can be diagnosed clinically on the basis of moderate to severe intellectual disability in the presence of characteristic facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression — coined as orecchiette ears given their resemblance to the pasta). Other clinical features can include congenital heart defects, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with

Angelman syndrome Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no f ...

. The diagnosis of MWS confirmed by demonstrating a pathogenic variant (mutation) in the '' ZEB2'' gene by molecular genetic testing.

Treatment

To date, there is no cure for MWS. Affected individuals should see a

pediatrician Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the ...

or adult physician at least annually to monitor growth, development, seizures and general health and well-being. Developmental potential is maximized through the use of

physiotherapy Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient ...

occupational therapy Occupational therapy (OT) is a global healthcare profession. It involves the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or ''occupations'', of individuals, groups, or communities. The field of ...

and speech pathology. Medical subspecialist care may be required if other organs are involved (e.g., a cardiologist and/or cardiac surgeon for congenital heart disease, gastroenterologist and or

surgeon In modern medicine, a surgeon is a medical professional who performs surgery. Although there are different traditions in different times and places, a modern surgeon usually is also a licensed physician or received the same medical training as ...

for Hirschsprung's disease or constipation.

Prognosis

There is no cure for this syndrome. Treatment is supportive and symptomatic. All children with Mowat–Wilson syndrome required early intervention with speech therapy, occupational therapy and physical therapy.

References

External links

GeneReview of Mowat–Wilson syndrome
{{DEFAULTSORT:Mowat-Wilson syndrome Transcription factor deficiencies Rare syndromes Rare genetic syndromes Syndromes affecting the gastrointestinal tract Syndromes affecting the heart Syndromes affecting the nervous system Syndromes with intellectual disability Syndromes with craniofacial abnormalities