Support, Research and Advocacy for Rare and Special Families

MWS Stories

United States

Heidi

Australia

Belgium

Croatia

France

Germany

Holland

Ireland

Italy

Netherlands

New Zealand

Serbia

South Africa

MWS Families

 If you would like to share your story and/or photographs, please email marciasmith@mowat-wilson.org.

Submit your story

Mowat-Wilson Syndrome is a recently defined mental retardation syndrome (1998) usually associated with multiple health defects and recognizable facial properties caused by a genetic mutation. The major health defects include Hirschsprung’s Disease (although not in all cases), intellectual disabilities, seizures, congenital heart disease, Agenesis of the Corpus Callosum, male genital abnormalities (hypospadias) and smaller than normal heads. Facial properties include prominent narrow chin, open mouth, cupped ears with protruding lobes, broad nasal bridge with rounded nasal tip, and wide set eyes. Watch the video below about the discovery of the syndrome and a boy named Max, a must watch.

© Copyright - Mowat-Wilson Syndrome Foundation