Orodental Manifestations of Rare Diseases

University Hospital, Strasbourg, France1,300 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

1,300

Conditions

Rare Disease Orodontal

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Patient presenting with a rare disease * New patient or patient already known in the center * Child (in his primary dentition) or adult * Man or woman * Having signed a consent form or accepted to participate to the study * Patient affiliated to social security * Validation of the inclusion by the principal investigator looking at the patient file Exclusion Criteria: * Patient whose clinical diagnostic is not possible * Patient whose clinical file does not contain teeth photos * Patient who has not signed a consent form and accepted to participate to the study * Patient who is not affiliated to social security. * Non validation of the inclusion by the principal investigator looking at the patient file

Outcomes

Primary Outcomes

Dental history

enamel defect

Time frame: baseline

Familial history

dental defect in family's subject

Time frame: baseline

Familial genotyping

Time frame: baseline

Orodental Manifestations of Rare Diseases

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes