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.
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.
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.
- 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.
- The rare disease database of the Swedish National Board of Health and Welfare.
- The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
- The Documentation from the Ågrenska national competence centre for rare diseases.