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

NCT07476417 | Not Yet Recruiting

• 1 other identifier: EC University of Milan 126/25
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

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

Keywords

Mowat-Wilson syndrome; dental caries; periodontal diseases; malocclusion; oral health; Craniofacial Abnormalities

Outcome Measures

Primary Outcomes (13)

• Dental caries assessment

  Dental caries will be measured as follows: * frequency of individuals with dental caries * distribution of patients' dental caries experience according to the individual DMFT index score (ranging from 0 to 28, where zero is equivalent to "no dental caries experience" and 28 that all teeth have been affected) * localization (type of tooth; permanent/decidous teeth) and severity of dental caries according to the ICDAS index (ranging from 0 to 6, where zero is equivalent to "sound tooth" and 6 to "extensive cavity with visible dentin")

  Baseline

• Facial morphometric assessment

  Facial soft tissue characteristics will be measured by 2D and 3D analysis performed on frontal/lateral photographs of the face and 3D face scanning, respectively. Extraoral facial photographs will be used for 2D facial morphometric analysis, both frontal and profile views, using OrthoTP® software (Microlab, Italy). 3D facial morphometric analysis will be performed on the 3D reconstructions of the subjects' facial scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA). The reference landmarks and planes for both 2D and 3D facial morphometric analyses were selected according to international criteria and previously validated protocols that have also been applied in the study of subjects with facial dysmorphisms. The values obtained will be compared with reference values reported in the literature for the general population matched for age and sex.

  Baseline

• Cephalometric assessment

  Dento-skeletal characteristics will be measured by cephalometric analysis performed on lateral skull radiographs of patients, if previously performed and provided by the parents/guardians. Cephalometric tracings and measures will be performed using OrthoTP® software (Microlab, Italy). The cephalometric analysis method that will be adopted is that of the Milan School of Orthodontics, which includes several analyses commonly used in orthodontics and internationally validated.

  Baseline

• Dental arch assessment

  Molar and canine Angle's dental arch relationships, frequency and degree of dental crowding/spacing, dental arch widths (intercanine, interpremolar, and intermolar widths) and depth will be assessed on patient's intraoral digital scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA).

  Baseline

• Dental anomalies assessment

  Frequency and type of dental anomalies (missing and/or suvrannumerary tooth; micro/macrodontia; tooth inclusion; tooth displacement; alterations in tooth morphology) will be assessed during the dental examination and on dental radiographs of subjects (panoramic dental x-ray, dental computer tomography) if provided by the parents/guardians

  Baseline

• Dental plaque assessment

  Mean and distribution of the WHO Plaque Index (PI) will be calculated. PI score can range from 0 to 3 (where 0 is "absence of dental plaque" and 3 is "abundant and visibile dental plaque").

  Baseline

• Developmental Defects of Enamel (DDEs) assessment

  Frequency, type and localization of DDEs will be assessed using the DDE index. The DDE index classifies enamel defects according to their clinical appearance. It categorizes defects into three main types: demarcated opacities, diffuse opacities, and enamel hypoplasia, and also allows the recording of combinations of these defects. The index records the type, distribution, and extent of the defect on each tooth surface, enabling consistent documentation and comparison of enamel developmental defects in clinical and epidemiological study. When the phenotypic appearance will suggest specific alterations consistent with molar-incisor hypomineralization (MIH) or dental fluorosis, specific indices will be used to assess the severity of the lesions (MIH and Dean indexes).

  Baseline

• Periodontal health assessment

  The Community Periodontal Index (CPI) will be used to assess in the 6 sextants of the mouth the parodontal status. The CPI ranges from 0 to 4, where zero stands for "healthy gingiva" and 4 for "deep pocket of 6 mm or more".

  Baseline

• Oral mucosa lesion assessment

  Frequency, type (e.g. abscess, leukoplakia, ulcer, oral candidiasis, etc...), and localization (vermilion borderof the lips, commisure of lips, lips, buccal mucosa, floor of mouth, tongue, palate, gum) of oral mucosal lesion will be assessed.

  Baseline

• Morphological facial assessment

  Frequency of convex and concave facial profile, brachicephalic (short-headed) and dolicocephalic (long-headed) craniofacial shape, decreased and increased lower third of the face, and mandibular and facial asymmetry will be assessed.

  Baseline

• Occlusal assessment

  The frequency of Class I, Class II, Class III, deepbite, openibite, crossbite, and scissorbite malocclusions, increased and/or decreased overjet and overbite, dental crowding, and spacing will be assessed.

  Baseline

• Oral functional assessment

  Frequency and type of oral habits/oral dysfunctions (e.g. oral breathing, tongue thrust, non-sucking habits, sleep apnoea, bruxism, etc...), tonsillar hypertrophy (Mallampati index), soft palate position (Friedman index), and temporomandibular disorders (TMD) will be assessed.

  Baseline

• Oral Health Realated Quality of Life (OHRQoL)

  Oral Health-Related Quality of Life will be assessed using standardized questionnaires: one for subjects up to 17 years of age (P-CPQ Questionnaire) and another for subjects aged 18 years and older (OHIP-14 Questionnaire).

  Baseline

Secondary Outcomes (1)

• Phenotype and genotype association

  Baseline

Study Arms (1)

Individuals diagnosed with MWS

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Partecipants will be enrolled from those who will attend the annual meeting of the Italian Mowat Wilson Association

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

Sponsors & Collaborators

• University of Milan: lead
• Associazione Italiana Mowat Wilson (Mowat Wilson Italian Association): collaborator

Study Sites (1)

University of Milan

Milan, Italy

Location

MeSH Terms

Conditions

Mowat-Wilson syndrome; Dental Caries; Periodontal Diseases; Tooth Diseases; Malocclusion; Tooth Abnormalities; Craniofacial Abnormalities

Condition Hierarchy (Ancestors)

Tooth Demineralization; Stomatognathic Diseases; Mouth Diseases; Stomatognathic System Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases

Central Study Contacts

Maria Grazia Cagetti, DDS, MSc, PhD

CONTACT

+39 02503 19008; maria.cagetti@unimi.it

Araxi Balian, DDS, MSc, PhD

CONTACT

araxibalian@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: March 6, 2026
• First Posted: March 17, 2026
• Study Start: April 1, 2026
• Primary Completion: May 31, 2026
• Study Completion (Estimated): August 30, 2026
• Last Updated: March 24, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• Time Frame: All requests for data relating to this study that are made within 5 years from data collection will be considered.
• Access Criteria: IPD generated during the study will be made available through the University of Milan Data Repository (UNIMI Dataverse). Only fully anonymized datasets will be shared to ensure the protection of participants' privacy and compliance with applicable data protection regulations. No information that could directly or indirectly identify individual participants will be included. Researchers interested in accessing the dataset will be able to submit a request through the UNIMI Dataverse platform, specifying the intended use of the data. Datasets will be accessible via the UNIMI Dataverse repository interface, where users will be required to agree to the repository's data use terms and conditions before downloading the files.

Locations

IT (1)