• Branislava Stojković
  • Marija Igić Faculty of Medicine, University of Niš, Preventive and pediatric dentistry, Niš, Serbia; Clinic of dental medicine, Preventive and pediatric dentistry, Niš, Serbia
  • Olivera Tričković Janjić Faculty of Medicine, University of Niš, Preventive and pediatric dentistry, Niš, Serbia; Clinic of dental medicine, Preventive and pediatric dentistry, Niš, Serbia
  • Ana Igić Faculty of Medicine, University of Niš, Preventive and pediatric dentistry, Niš, Serbia
  • Ljiljana Čemerikić Clinic of dental medicine, Preventive and pediatric dentistry, Niš, Serbia
  • Zorana Veličković Faculty of Medicine, University of Niš, Preventive and pediatric dentistry, Niš, Serbia
  • Simona Stojanović Faculty of Medicine, University of Niš, Clinic of dental medicine, Oral surgery, Niš, Serbia
  • Milica Petrović Faculty of Medicinem University of Niš, Oral medicine and periodontology, Niš, Serbia


rare disease,, children, oral health, preventive dental care


Rare diseases are chronic, life-threatening conditions that affect fewer than 5 people out of every 10,000. They involve an extremely heterogeneous group of progressive and degenerative diseases. Each of them has a distinct clinical manifestation which may include anatomical, physiological and/or neurological disorders and it can also be accompanied by changes in different parts of the body. Over 7000 rare diseases have been identified with orofacial anomalies accounting for about 15% of them. The first symptoms usually appear during the earliest childhood. In most cases, accurate diagnosis of rare diseases requires a long period of time. Consequently, therapy is complex and requires a multidisciplinary approach.

Author Biography

Branislava Stojković

Medicinski fakultet Univerziteta u Nišu, Klinika za dentalnu medicinu, Služba za Preventivnu i dečju stomatologiju


Stolk P, Willemen MJ, Leufkens HG. Rare essentials: drugs for rare diseases as essential medicines. Bull World Health Organ. 2006; 84:745–751. doi: 10.2471/blt.06.031518

Luo E, Liu H, Zhao Q, Shi B,Chen Q. Dental-craniofacial manifestation and treatment of rare diseases. Int J Oral Sci. 2019; 11(1):

Azie N, Vincent, J. Rare diseases: the bane of modern society and the quest for cures. Clin Pharmacol Ther. 2012; 92(2):135–139.doi:10.1038/clpt.2012.97

Eurordis - Rare Diseases Europe. Available online: (accessed on 31st January 2023)

Marwaha S, Knowles, JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome medicine 2022; 14 (1): 1-22.

Austin CP et al. Future of rare diseases research 2017–2027: an IRDiRC perspective. Clinical and translational science 2018; 11(1): 21.

Krajnović D.Ethical and Social Aspects onRare Diseases.In: Drezgić R, Radinković Ž, Krstić P eds.Horizon bioethics: Morality in the age of technical reproduction of life. Belgrade: University of Belgrade- Institute for Philosophy and Social Theory; 2012:231:52.

Ekins S. Industrializing rare disease therapy discovery and development. Nat Biotechnol.2017; 35(2): 117-118.doi:10.1038/nbt.3787

Available online: (accessed on 31st January 2023).

Vanz AP, van de Sande Lee J, Pinheiro B, Zambrano M, Brizola E, da Rocha NS, et al. Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQLTM. BMC Pediatrics. 2018 Mar 2;18(1):95.

Slade A, Isa F, Kyte D, Pankhurst T, Kerecuk L, Ferguson J, Lipkin G, Calvert M. Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 2018;13(1)

Kvarnung M, Nordgren A. Intellectual Disability & Rare Disorders: A Diagnostic Challenge. In: Posada de la Paz M, Taruscio D, Groft SC, editors. Rare Diseases Epidemiology: Update and Overview Cham: Springer International Publishing; 2017:39–54.

Salerno C, D’Avola V, Oberti L, Almonte E, Bazzini EM, Tartaglia GM, et al. Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal. Children 2022; 9(1)

Thesleff I. The genetic basis of normal and abnormal craniofacial development. Acta Odontol Scand. 1998; 56:321–325. doi: 10.1080/000163598428248.

Hennekam RCM, Allanson JE, Krantz ID, Gorlin RJ. Gorlin’s Syndromes of the Head and Neck, 5th ed.;Oxford University Press: Oxford, UK; New York, NY, USA, 2010.

Wiemann S, Nicolas FB, Rainer AJ, Johannes K, Marcel H. Oral symptoms and oral health-related quality of life in people with rare diseases in Germany: a cross-sectional study. Int J Environ Res. 2018; 15(7):1493.doi:10.3390/ijerph15071493

Prado HV, Carneiro NCR, Perazzo MF, de Abreu MHNG, Martins C de C, Borges-Oliveira AC. Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development. Orphanet J Rare Dis. 2019;14(1)

Sjögreen L, Andersson-Norinder J, Bratel J. Oral health and oromotor function in rare diseases—A database study. Swed Dent J. 2015; 39: 23-37.PMID: 26529839

Friedlander L, Vincent M, Berdal A, Cormier Daire V, Lyonnet S, Gercelon 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):

Goswami M, Bhushan U, Goswami M. Dental Perspective of Rare Disease of Fanconi Anemia: Case Report with Review. Clin Med Insights Case Rep. 2016;9:CCRep.S37931. doi: 10.4137/CCRep.S37931

Munné-Miralvés C, Brunet-Llobet L, Cahuana-Cárdenas A, Torné-Durán S, Miranda-Rius J, Rivera-Baró A. Oral disorders in children with Prader-Willi syndrome: a case control study. Orphanet J Rare Dis. 2020;15(1):43.

Panny A, Glurich I, Haws RM, Acharya A. Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. J Dent Res. 2017;96(12):1361–9. doi: 10.1177/0022034517716913.

Smith BM, Cutilli BJ, Fedele M. Lesch-Nyhan syndrome: a case report. Oral sur oral med oral pathol. 1994;78.3: 317-318.doi: 10.1016/0030-4220(94)90061-2.

Ranjith A, Nandakumar K. Glanzmann thrombasthenia: a rare hematological disorder with oral manifestations: a case report. J Contemporary Dent Practice. 2008; 9(5): 107-113.PMID: 18633476

Braúna APVS, Abreu MHNG, Resende VLS, de Castilho LS. Risk factors for dental caries in children with developmental disabilities. Braz Oral Res. 2016; 30. doi: 10.1590/1807-3107bor-2016.vol30.007

Liu Z, Yu D, Luo W, Yang J, Lu J, Gao S, Li W, Zhao W. Impact of Oral Health Behaviors on Dental Caries in Children with Intellectual Disabilities in Guangzhou, China. Int J Environ Res 2014;11(10):11015–27.doi: 10.3390/ijerph111011015

Friedlander L, Berdal A, Boizeau P, Licht BA, Manière MC, Picard A, Azzis O, Vazquez MA, Alberti C, De La Dure Molla M. Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study. Orphanet J Rare Dis 2019;14(1):124.doi: 10.1186/s13023-019-1109-2

Johansen H, Dammann B, Andresen IL, Fagerland MW. Health-related quality of life for children with rare diagnoses, their parents’ satisfaction with life and the association between the two. Health and quality of life outcomes 2013: 11(1): 1-7. doi:10.1186/1477-7525-11-152

Benz , Trapp R, Voss M, Hanich M, Geisthoff U, Jackowski J. Awareness and Knowledge of Rare Diseases in German Dentists, Dental Specialists and Oral and Maxillofacial Surgeons: A Country-Wide Survey. Medicina 2022; 58(8)

Available online: on 1th February 2023).

Funk EM, Mikati MA, Landstrom AP, Moya-Mendez ME, Wallace KR, Milton OP, Matthew EH, Guy DMA. Anesthetic implications in alternating hemiplegia of childhood: A case report. AANA J 2022; 90(4):297-302.PMID: 35943757

Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006;1(1):34. doi: 10.1186/1750-1172-1-34.

Castellano JM, Silvay G, Castillo JG. Marfan syndrome: clinical, surgical, and anesthetic considerations. Semin Cardiothorac Vasc Anesth. 2014; 18(3): 260-271. doi: 10.1177/1089253213513842.

El Tantawi M, Folayan MO, Mehaina M, Vukovic A, Castillo JL, Gaffa BO, Archeim A, A, Al-Batayneh OL, Kemoli AM, Schroth RJ, Lee GM. Prevalence and DataAvailability of Early Childhood Caries in 193 United Nations Countries, 2007–2017. Am J of Public Health. 2018; 108 (8):1066–1072.doi: 10.2105/AJPH.2018.304466






Review Articles