Mowat–Wilson syndrome

Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. David R. Mowat and Dr. Meredith J. Wilson in 1998.

Presentation

This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's 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. 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.

Causes

The disorder is expressed in an autosomal dominant fashion and may result from a de novo loss of function mutation or total deletion of the ZEB2 gene located on chromosome 2q22.

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.

External links

Classification	ICD-10: Q43.1 OMIM: 235730 MeSH: C536990 DiseasesDB: 32975
External resources	Orphanet: 2152

• Centre for Genetics Education in Sydney, Australia (PDF Information Sheet)
• GeneReview of Mowat–Wilson syndrome
• Mowat-Wilson Syndrome Foundation