An observational study in Mowat-Wilson Syndrome, Dental Caries and Periodontal Diseases, sponsored by University of Milan. Not yet recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2026-03-24.
Sponsored by University of Milan · Observational
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.
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 .
1,171 studies on the registry are indexed under Dental Caries; 209 are open to participants now.
This study's planned enrollment of 25 is below the median of 174 across 187 observational studies indexed under Dental Caries.
Browse Dental Caries studies →University of Milan is the lead sponsor of 183 studies on the registry; 28 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Partecipants will be enrolled from those who will attend the annual meeting of the Italian Mowat Wilson Association
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Subects affected by MWS with molecularly confirmed diagnosis of ZEB2 gene variation.
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")
Time frame: 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.
Time frame: 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.
Time frame: 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).
Time frame: 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
Time frame: 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").
Time frame: 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).
Time frame: 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".
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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).
Time frame: Baseline
Phenotype and genotype association
Correlation between genotype and phenotype will be investigated by analyzing the association between the dental, occlusal, and facial characteristics observed and the three main genetic variants of mutation of the ZEB2 gene (complete deletion; absence of protein; defective protein) through Chi-squared and Fisher's exact tests.
Time frame: Baseline
Plan to share: Yes — Individual de-identified patient data will be shared on the respository UNIMI Dataverse
Supporting information: Study protocol, Statistical analysis plan
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.
Data sharing details ↗ · dataverse.unimi.it
No publications or documents are linked to this record.
Start is estimated for Apr 2026; primary completion for May 2026, 1 month later.
How these figures are worked out, and which studies are left out of them.
This study is not yet recruiting, as verified in Mar 2026. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.