To use all functions of this page, please activate cookies in your browser.
With an accout for my.bionity.com you can always see everything at a glance – and you can configure your own website and individual newsletter.
- My watch list
- My saved searches
- My saved topics
- My newsletter
Additional recommended knowledge
The disorder is characterized by a number of health defects including Hirschsprung's disease, mental retardation, seizure disorder, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. Distinctive physical features include microcephaly, narrow chin, cupped ears with protruding lobes, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum.
The disorder is an autosomal dominant disorder resulting from new mutations or deletions of the ZFHX1B (SMADIP1) gene on chromosome 2q22. However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable.
There is no cure for this syndrome. Treatment is supportive and symptomatic.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Mowat-Wilson_syndrome". A list of authors is available in Wikipedia.|