Orofacial Alterations in Rare Neuropediatric Diseases

Introduction: Of the 7000 - 8000 rare diseases known worldwide, about 15% present with orofacial involvement. Besides anomalies of dental hard tissue and oral soft tissue, craniofacial malformations, such as cleft lip, alveolus and palate as well as dentofacial deformities are notable in this context. Rare diseases, such as Kohlschütter-Tönz syndrome, the disease pattern of ataxia, delayed eruption of teeth, hypomyelination or leukodystrophy are associated with orofacial anomalies. The objective of this project is the establishment of a web-based registry for orofacial manifestations in rare diseases ("ROMSE"), which also includes orofacial alterations in rare neuropediatric diseases. Material and methods: Since 2011 databases (Orphanet, e-medicine, Gene-Clinics, EMA, OMIM), MEDLINE, medical literature and the grey literature have been systematically explored for "rare diseases" and evaluated with respect to associated orofacial manifestation. Such identified diseases with orofacial alterations have been included in the "ROMSE" registry in alphabetical order and made available at http://romse.org. Moreover, based on a review of literature relating to each single rare entity, specifically relevant literature has been successively entered in the register. Results: Angelman syndrome, the disease pattern of ataxia, late dentition, hypomyelination, Kohlschütter-Tönz syndrome, oculodentodigital dysplasia, and leukodystrophy are rare diseases associated with typical tooth anomalies (microdontia without proximal contact to adjacent teeth, atypical order of tooth eruption, enamel anomalies, tooth discoloration). Each of these registered diseases has already been recorded, including a description of the disease, listing of orofacial manifestation(s), and specifically-relevant publications or will be entered in the registry in the future. Furthermore, an assignment to categories provides the option to search the register solely according to clinical symptoms. Conclusion: Orofacial alterations can be a determining factor for differential diagnosis of rare neuropediatric diseases. Developing the "ROMSE" registry for orofacial manifestations in rare diseases provides an expert platform on the basis of which therapeutic strategies can be addressed and refined in an interdisciplinary manner. In children with multiple disabilities, even toothaches can be a big therapeutic challenge involving paediatricians, anaesthesiologists, dentists, and oral and maxillofacial surgeons. Keywords: Rare neuropediatric diseases, orofacial manifestations