An observational study in Rare Disease Orodontal, sponsored by University Hospital, Strasbourg, France. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-05-15.
Sponsored by University Hospital, Strasbourg, France · Observational
OroDental anomalies are one of the phenotypical aspects of at least 900 rare diseases or syndromes affecting by definition less than 1 in 2000 individual within the population (almost 25 million persons in Europe).
They are often described in association with other organs or system malformations, which is understandable, because the same genes and signalling pathways regulate the oral cavity formation or odontogenesis and the development of other organs. The various dental and orofacial anomalies can be classified by type (anomalies of tooth number, shape, size, structures of mineralized tissues, eruption, resorption, tumors; anomalies of oral mucosa; anomalies of tongue…), by signalling pathways and by syndrome families.
These anomalies (for example hypodontia/oligodontia, amelogenesis imperfecta, dentinogenesis imperfecta…) become increasingly identified as diagnostic and predictive traits. Not only is it important to recognise, name appropriately and integrate these dysmorphic clues into the patient dysmorphology analysis but it is essential to synthesize the observations and confront them to existing data about similar orodental anomalies encountered in some of the corresponding mutant mouse models.
Translational approaches in development and medicine, are relevant to gain understanding of molecular events underlying clinical manifestations and to enhance diagnostic accuracy.
The aim of this study is to improve the knowledge, diagnosis and care of oral cavity pathologies encountered in rare diseases via the identification and gathering of national and international patient cohorts and to structure the molecular diagnosis behind these conditions via targeted next-generation sequencing assays. Data collection is implemented on validated accredited tools (databases) complying with the legal regulations about patient data protection and medical record collection. All information is anonymized.
New effective diagnosis and therapeutic tools are being developed.
University Hospital, Strasbourg, France is the lead sponsor of 966 studies on the registry; 342 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Routine care hospitalization patient
Patient presenting with a rare disease
Exclusion Criteria:
Patient whose clinical diagnostic is not possible
Dental history
enamel defect
Time frame: baseline
Familial history
dental defect in family's subject
Time frame: baseline
Familial genotyping
Time frame: baseline
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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University Hospital, Strasbourg, France