Mowat-Wilson Syndrome (MWS) is a rare syndrome characterized by the presence of facial gestalt and delayed psychomotor development, variably associated with intellectual disability, epilepsy, Hirschsprung's disease (HSCR) and multiple congenital malformations.
Although there is evidence of the presence of dental and craniofacial anomalies in MWS, little epidemiological data is available to date.
The goal of this observational study is to assess oral health and dento-facial phenotype of people affected by Mowat-Wilson Syndrome (MWS). In addition, the Oral Health Related Quality of Life (OHRQoL) will be investigated.
individuals affected by MWS with confirmed molecularly diagnosis of ZEB2 gene variation.
written informed consent statement signed by parents/legal guardians for participation in the study
individuals not affected by MWS
refusal of parents/legal guardians to participate in the study
University of Milan
Lead sponsor
Associazione Italiana Mowat Wilson (Mowat Wilson Italian Association)
Collaborator