Mowat-Wilson syndrome

Codes

ICD-10: Q43.1

ORPHA: 2152

General information

Estimated occurrence

2:100,000 inhabitants.

Cause

Mowat-Wilson syndrome normally appears due to a de novo mutation on the ZEB2 gene on chromosome 2q22.3, but can also be due to autosomal dominant inheritance.

General symptoms

Children with Mowat-Wilson syndrome have late motoric development and developmental disorders. Shortness and a small head circumference are common. Abnormalities occur in the brain and internal organs, as do skeletal deviations. Around half the children have a congenital heart defect. Epilepsy is very common, as are stomach and bowel problems and chronic constipation. Many suffer from eye symptoms, e.g. drooping eyelids, strabismus and cataracts.

Orofacial/odontological symptoms

Characteristic facial features are associated with the diagnosis. These become more pronounced with time. Mouth-related symptoms that may occur include widely spaced teeth, cleft palate, daytime bruxism, bad biting habits and reduced pain sensitivity. Oral motor function is often affected, and difficulties sucking and eating, as well as saliva leakage, are common.

Advice on follow-up and treatment

Early contact with dental services for intensified prophylactic care and oral hygiene information is essential in cases of difficulty with managing dental treatment and tooth brushing.
Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
Oral motor training and stimulation may be appropriate in cases of eating difficulties, speaking difficulties and reduced saliva control.
Speech, language and communication training is often warranted.

Sources

National Board of Health and Welfare

Updated: 2019-11-12 15:06