Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.

Starting soon

Conditions studied: Mowat-Wilson Syndrome, Dental Caries, Periodontal Diseases, Sleep Related Breathing Disorder, Tooth Diseases, Malocclusion, Tooth Abnormalities, Oral Health Related Quality of Life (OHRQoL), Craniofacial Abnormalities, Oral Mucosal Disease

In brief

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.

Key facts

Study ID

NCT07476417

Run by

University of Milan

People needed

25

Starts

2026-04-01

Expected to finish

2026-08-30

Last updated by the study team

2026-03-24

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• individuals not affected by MWS
• refusal of parents/legal guardians to participate in the study

Where it is running

• University of Milan — Milan, Italy

Full record on ClinicalTrials.gov

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