Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study. (ORALMOWAT26)

University of Milan

Status: Not yet enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT07476417

EC University of Milan 126/25

Details and patient eligibility

About

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.

Full description

Subjects will be recruited from those attending the annual meeting of Mowat Wilson Italian Association, whose parents/guardians will have agreed and signed informed consent for their participation in the study.

Parents/guardians will be asked to answer to a series of questionnaires regarding comprehensive medical and dental history, oral habits, socioeconomic status, and oral-health related quality of life (OHRQoL).

Participants will then undergo intraoral and extraoral examination, extraoral photographs of the face; dental and facial digital scans will be also collected.

Parents/guardians will be asked to provide any dental radiographs of subjects (panoramic dental x-ray, dental computer tomography, lateral skull radiographs for cephalometry) if previously performed .

Enrollment: 25 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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

Exclusion criteria

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

Trial design

25 participants in 1 patient group

Individuals diagnosed with MWS

Description:

Subects affected by MWS with molecularly confirmed diagnosis of ZEB2 gene variation.