Orthodontically Relevant Manifestations in People with Rare Diseases

Abstract

Background: Approximately 15% of all rare diseases occur with orofacial manifestations. Symptoms and manifestations of relevance to orthodontists represent a considerable proportion of these diseases and require appropriate strategies for their treatment. This article provides an overview of the orthodontically relevant manifestations of rare diseases. Material and Methods: Overall, 3,639 rare diseases listed at the Orphanet, OMIM or Pubmed database were evaluated for orofacial manifestations. All rare diseases which were indicated with at least one orofacial manifestation were recorded in a database for rare diseases with orofacial manifestations called “ROMSE,” which was developed by the authors. All the rare diseases were analysed with regard to orthodontically relevant orofacial manifestations, such as dysgnathia, changes in the number of teeth, failures of eruption, pathologies of bone metabolism or orofacial clefts. For all rare diseases with orthodontic relevance, an exact analysis was undertaken. Results: The orthodontically relevant orofacial manifestation termed dysgnathia is described in 151 of 535 identified rare diseases (28.2%). In these 151 rare diseases, 15 different subforms of dysgnathia, in the sense of skeletal misdevelopments of the jaws but without dental abnormalities, were described. Also changes in the number of teeth (17.9%), orofacial clefts (27.6%), failures of eruption (8.4%) and pathologies of the bone (2.1%) were described. Conclusions: Orthodontics play an important role in the diagnosis and treatment of orofacial manifestations in rare diseases. Databases such as ROMSE are a first step toward providing valid information in publicly accessible databases.

Self-Assessment of Oral Health-Related Quality of Life in People with Ectodermal Dysplasia in Germany

“…Dentists, oral/maxillofacial surgeons and orthodontists seem to play a key role in recognising patients with genetically caused dental agenesis and other anomalies, such as ectodermal dysplasia. Often, especially the orthodontist is likely to be the first (dental) physician to be contacted wherever dental agenesis arises [22]. Consequently, the orthodontist plays a decisive role in the recognition of patients with ectodermal dysplasia which do not exhibit any external symptoms at first glance (Figure 4, Figure 5, Figure 6, Figure 7, Figure 8 and Figure 9).…”

Knowledge and Associated Factors about Rare Diseases among Dentists in Israel: A Cross Sectional Survey

“…Knowledge and resultant recognition of such manifestations are even more important when considering that some of those rare diseases may have already undergone irreversible damage before their orofacial manifestations [ 1 ]. Some of the rare diseases that include orofacial expressions are uncommon, and 471 of them were diagnosed as of 2017 [ 2 ], including those with particular significance to certain dental specialties, such as orthodontics [ 3 ] and periodontics [ 4 ]. The knowledge of rare diseases with orofacial manifestations is nevertheless relevant to all dental practitioners who may be the first to recognize the underlying pathology.…”

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].…”