Rare Disorders: Diagnosis and Therapeutic Planning for Patients Seeking Orthodontic Treatment

Abstract

The available literature on the orthodontic treatment of patients with rare disorders is extremely scarce. The aim of this study was to analyze the diagnosis and orthodontic treatment of a group of 94 individuals with rare diseases, referred for orthodontic evaluation to a university special care dentistry center (University of Santiago de Compostela, Spain). We created a control group of 94 systemically healthy individuals, paired by sex and age range. For all participants, we recorded their dental and skeletal abnormalities, oromotor dysfunctions and the characteristics of their orthodontic treatment. Some of the morphological and functional abnormalities were more prevalent in the rare disorders group than in the control group, including dental agenesis, microdontia, enamel defects, maxillary hypoplasia, overbite, cleft lip/palate, mouth breathing, atypical swallowing, lingual/labial interposition, labial incompetence, modified consistency diet, bruxism, and muscle tone abnormalities. Compared with the control group, the 56 patients with rare disorders who underwent orthodontic treatment required more desensitization sessions, used mixed appliances (fixed and removable) more often and for longer periods and had more frequent complications, such as gingivitis, caries, mucosal ulcers and recurrent debonding of the device. In conclusion, for selected patients with rare disorders, it is feasible to perform orthodontic treatment, whose planning will be determined by the dental-skeletal abnormalities and oromotor dysfunctions. Although complications are more frequent, they can typically be solved without having to stop treatment.

Dental Profile of Brazilian Patients with Rare Skeletal Genetic Disorders: Clinical Features and Associated Factors

“…Individuals with rare diseases may face difficulties obtaining sufficient oral health assistance in both public and private systems. Some of the factors described in the literature as being involved in patients facing those difficulties are the health professionals' lack of knowledge about the rare disease, difficulties in obtaining transportation, the health professional's fear of intervening [33], the lack of acceptance, the parents' lack of knowledge about the importance of their child receiving oral health care, as well as some specific oral characteristics of the condition [25,30].…”

“…The number of decayed (presence of cavitated lesion), missing, and filled teeth was recorded for primary and permanent teeth. The presence/absence of malocclusion was identified according to the following criteria: the presence of overjet (increased/protrusion, anterior crossbite, absent), overbite (increased/deep bite, anterior open bite, absent, top), and posterior crossbite [25,29,30]. The presence of gingivitis was recorded based on the analysis of the contour and color of the gingiva [31].…”

“…Dental agenesis was identified as a possible diagnosis because intraoral radiographs were not performed in the present study. Developmental defects of enamel and DI were also assessed [25,29,30,32].…”

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report

“…In patients with ARS, the risks of orthodontic treatment have not been clear in part because few cases of orthodontic treatment have been reported [21]. A priority aspect for this type of patient is the maintenance of correct oral hygiene as for all patients suffering from rare diseases [25][26][27][28][29][30][31] in order to safeguard the periodontal condition having a reduced size of the mandibular and maxillary bone crest and the presence of short roots with little presence of adherent gingiva [32,33]. These factors can determine the premature loss of tooth following periodontal disease, furthermore the maintenance of periodontal health is fundamental for implant rehabilitation in sectors with agenesis or where there has been the loss of dental elements, not easy to plan as described by Pirih et al for the reduction of bone thickness [34].…”