Oral health must play a more important role in both management and patient phenotyping in patients with rare genetic diseases such as Alagille syndrome (ALGS), cystic fibrosis (CF), esophageal atresia, and short bowel syndrome, researchers wrote in a study recently published in the Orphanet Journal of Rare Diseases.

Several sources define a rare disease as one that affects less than 1 in 2000 people; based on this definition, there are currently around 8000 diseases classified as rare diseases.

Of these 8000 diseases, approximately 1200 affect the dental status of patients and require dental treatment. The authors believe that maintaining oral health is a particularly important issue in this group of patients.

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“Indeed, oral microenvironment is a crossroads of vital functions such as mastication, swallowing, breathing and phonation,” the authors wrote.

Read more about Alagille syndrome complications

Therefore, the study team aimed to assess the pattern of oral health in a population of over 2700 patients with 39 different rare diseases ranging from ALGS and CF to ectodermal dysplasia. The retrospective cohort study used a search engine from Necker Hospital in Paris, France to look for keywords such as “carie” (decay), “gencive” (gum), “oral” (oral), and “bouche” (mouth) to extract patient records mentioning these words.

Among the patients included in the study, only 18% had a dental phenotypic description in their files, while an orientation in an oral healthcare course was only completed in approximately 15% of the studied cases. The patients more commonly referred for oral care were those with rare diseases of the head and neck, rare dermatological diseases, and rare bone diseases.

For patients outside the 3 aforementioned groups, the dental and oral phenotype appeared to be insufficiently noted and, in many cases, even unknown.

The authors hypothesized that many patients do not seek oral healthcare due to the complexity of their pathologies, the absence of dental and oral professionals in rare disease centers, and financial factors.

“There is a strong case for better promotion of oral health in centers of expertise, for diseases that are not intuitively linked to oral health,” the authors wrote. “This promotion will involve prevention, therapeutic education, and better awareness of health professionals on oral health.”


Friedlander L, Vincent M, Berdal A, Cormier-Daire V, Lyonnet S, Garcelon N. Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method. Orphanet J Rare Dis. 2022;17(1):317. doi:10.1186/s13023-022-02467-7