Research Unit Rare Diseases with Orofacial Manifestations (RDOM), Department of Cranio-Maxillofacial Surgery, University Hospital Münster, Münster, Germany,
Department of Oral Surgery and Dental Emergency Care, School of Dentistry, Faculty of Health, Witten/Herdecke University, Witten, Germany,
Med Princ Pract. 2019;28(3):216-221. doi: 10.1159/000497437. Epub 2019 Feb 4.
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.
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.
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.
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.
大约 15%的所有罕见疾病都有口腔表现。与正畸医生相关的症状和表现代表了这些疾病的相当一部分，需要针对这些疾病制定适当的治疗策略。本文概述了罕见疾病中与正畸相关的表现。
总共评估了 Orphanet、OMIM 或 Pubmed 数据库中列出的 3639 种罕见疾病，以确定其是否存在口腔表现。所有至少有一种口腔表现的罕见疾病都被记录在一个名为“ROMSE”的数据库中，该数据库由作者开发，用于记录有口腔表现的罕见疾病。所有罕见疾病都根据正畸相关的口腔表现进行了分析，例如错颌畸形、牙齿数量变化、萌出失败、骨代谢疾病或口腔裂隙。对于所有具有正畸相关性的罕见疾病，都进行了详细分析。
在 535 种已确定的罕见疾病中，有 151 种（28.2%）存在正畸相关的口腔表现，称为错颌畸形。在这 151 种罕见疾病中，描述了 15 种不同类型的错颌畸形，即颌骨骨骼发育不良但无牙齿异常。此外，还描述了牙齿数量变化（17.9%）、口腔裂隙（27.6%）、萌出失败（8.4%）和骨骼疾病（2.1%）。
正畸在罕见疾病的口腔表现的诊断和治疗中起着重要作用。ROMSE 等数据库是在公共可访问数据库中提供有效信息的第一步。
