Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features

November 14, 2025 updated by: Andrea Scribante, University of Pavia

A Clinical Investigation Into the Co-occurrence of Dental Anomalies With Ocular and Cutaneous Features

Considering recent literature, it is possible to hypothesise a link between dental anomalies and ocular and/or cutaneous findings, given the existence of shared genetic and developmental mechanisms between these two anatomical areas. Both the eye and teeth develop from ectodermal and mesenchymal tissues, involving common molecular signalling pathways such as Wnt, BMP and PAX. Genetic variants affecting these pathways can therefore determine combined phenotypes, such as congenital cataracts associated with dental agenesis or enamel malformations. Some rare genetic syndromes, such as Nance-Horan syndrome and oculofacio-cardio-dental (OFCD) syndrome, support the hypothesis of a systemic correlation between odontogenesis and ocular development. In a previous study on congenital cataracts, nearly 10% of probands with variants in the BCOR, CWC27, IFIH1, NHS, and PAX6 genes had various dental abnormalities. Therefore, exploring the possible connection between eye and dental diseases may not only facilitate early and multidisciplinary diagnosis, but also open up new perspectives in genetic research and the development of personalised therapeutic approaches, for which whole genome sequencing (WGS) appears to be the first choice for investigating non-syndromic forms. Therefore, the current clinical study aims to identify variants in genes common to eye diseases and dental anomalies (agenesis, supernumerary teeth, Hutchinson's teeth, mulberry molars) in orthodontic patients over the age of 12 with dental anomalies who are about to begin orthodontic treatment or who are attending routine check-ups at the Orthodontics and Paediatric Dentistry Unit, Department of Clinical, Surgical, Diagnostic and Paediatrics Sciences at the University of Pavia who have a family history of ocular and cutaneous manifestations or presenting at the same time dental, ocular and/or cutaneous anomalies. Patients who are eligible will be invited to participate in the study. After signing the informed consent form, the Case Report Form will be completed to collect the data of interest for the study; previous medical reports will be asked to patients or parents/legal guardians in case of minors to ascertain ocular and cutaneous pathologies; a buccal swab will be taken to collect a DNA sample that will be analysed with Next Generation Sequencing. In addition, cephalometric evaluations will be performed if lateral teleradiographs will be available, if already performed in accordance with Good Clinical Practice for the purposes of orthodontic assessment of patients.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Not yet recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

Considering recent literature, a possible link between ocular diseases and dental anomalies could be hypothesized, given the existence of shared genetic and developmental mechanisms between these two anatomical districts. Both the eye and the teeth develop from ectodermal and mesenchymal tissues, involving common molecular signaling pathways such as Wnt, BMP, and Pax. Genetic variants affecting these pathways may therefore result in combined phenotypes, such as congenital cataract associated with tooth agenesis or enamel malformations.

Certain rare genetic syndromes, such as Nance-Horan syndrome and Oculo-Facio-Cardio-Dental syndrome (OFCD), support the hypothesis of a systemic correlation between odontogenesis and eye development. In a previous study on congenital cataract, almost 10% of probands with variants in BCOR, CWC27, IFIH1, NHS, and PAX6, various dental anomalies were observed. Therefore, exploring the possible connection between ocular and dental diseases may not only facilitate early and multidisciplinary diagnosis but also open new perspectives in genetic research and the development of personalized therapeutic approaches, for which Whole Genome Sequencing seems the first choice option to investigate non-syndromic forms.

Therefore, the current observational study aims at identifying variants in common genes for ocular pathologies and dental anomalies (agenesis, supernumeraries, Hutchinson teeth, Mulberry molars) in orthodontic patients with family history of ocular manifestations, to hypothesize a deeper connection between teeth and eyes. An electronic search will be performed on the database of the Unit of Orthodontics and Pediatric Dentistry, Section of Dentistry, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences of the University of Pavia to find patients presenting tooth abnormalities. Patients will be contacted by phone to collect information on their family history of ocular pathology. If the anamnesis will be positive, they will be invited to be enrolled in the study, and a buccal swab will be perfomed to collect DNA sample that will be analysed with Next Generation Sequencing. The same procedure will be performed with patients presenting for oral care at the same Unit prospectively. Additionally, skeletal patterns will be evaluated through cephalometric analysis if lateral cephalometric radiographs will be present. As secondary outcome, anomalies on skin appendages will be evaluated, considering the common ectodermal origin between skin and teeth.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
5

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • Italy
    • Lombardy
      • Pavia, Lombardy, Italy, 27100
        • Unit of Orthodontics and Pediatric Dentistry - Section of Dentistry - Department of Clinical, Surgical, Diagnostic and Pediatrics - University of Pavia
        • Contact:
      • Pavia, Lombardy, Italy, 27100
        • Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Study Population

Orthodontic patients undergone orthopedic/orthodontic treatment and fulfilling inclusion criteria.

Description

Inclusion Criteria:

  • Supernumerary teeth
  • oligodontia
  • screw driver sharped incisors
  • Hutchinson's teeth
  • mulberry molars
  • tooth agenesis
  • congenital cataract, keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia in probands or relatives
  • skin appendages anomalies in probands or relatives

Exclusion Criteria:

  • Previous orthodontic, restorative, endodontic, prosthetic and surgical treatment that could alter tooth morphology and position

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: Orthodontic patients
Patients fulfilling the inclusion criteria will undergo blood sampling
Other: Cephalometric tracing
Cephalometric tracing will be performed on lateral cephalometric radiographs if present and not taken on purpose for the study
Genetic: Whole Genome Sequencing
Genetic testing will be performed to find variants in genes involving congenital cataract and/or ocular diseases (keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia) and dental anomalies (tooth agenesis, supernumerary teeth, Hutchinson teeth, mulberry molars). Cutaneous appendage anomalies will be also evaluated in clinical history for ascertaining ectodermal diplasia.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Presence of variants in common genes for dental anomalies, ocular diseases and cutaneous/skin appendages features
Time Frame: Baseline
Whole Genome Sequencing will be used to find pathogenetic variants
Baseline

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
SNA angle
Time Frame: Baseline
Angle between the sella, nasion and A point measured on lateral cephalometric radiograph
Baseline
SNB angle
Time Frame: Baseline
Angle between the sella, nasion and B point measured on lateral cephalometric radiograph
Baseline
ANB angle
Time Frame: Baseline
Angle between point A, the nasion and point B measured on lateral cephalometric radiograph
Baseline
SN plane
Time Frame: Baseline
Plane between the sella point S and nasion point N measured on lateral cephalometric radiograph
Baseline
ANS-PNS plane
Time Frame: Baseline
Bispinal plane traced between the anterior nasal spine (ANS) and the posterior nasal spine (PNS) measured on lateral cephalometric radiograph
Baseline
GoGn plane
Time Frame: Baseline
Mandibular plane traced between Gonion and Gnathion points measured on lateral cephalometric radiograph
Baseline
Sella turcica length
Time Frame: Baseline
Distance between the Tuberculum sellae (TS) and the dorsum sella measured on lateral cephalometric radiograph
Baseline
Sella turcica diameter
Time Frame: Baseline
Distance between the Tuberculum Sellae (TS) and the farthest point on the inner wall of the sella measured on lateral cephalometric radiograph
Baseline
Sella turcica depth
Time Frame: Baseline
The distance of a line dropped perpendicularly from the interclinoidal distance to the deepest point of the sella floor measured on lateral cephalometric radiograph
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University of Pavia

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Andrea Scribante, University of Pavia

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
February 1, 2026

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
April 1, 2027

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 1, 2027

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
April 21, 2025

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 21, 2025

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
April 30, 2025

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
November 19, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 14, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
November 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 2025-DENTALOCULARANOMALIES

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Data will be available upon motivated request to the Principal Investigator.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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