The Center for Rare Diseases is an outpatient clinic with a primary focus on diagnosing and providing follow-up care for complex, multidisciplinary diseases. We specialize in a broad range of rare conditions, such as syndromal craniofacial disorders, skeletal dysplasias, tuberous sclerosis, neurofibromatosis type 1 (NF1), Rubinstein-Taybi syndrome, Prader-Willi syndrome, and Rett syndrome. Research and clinical work are closely related at the Danish Center for Rett syndrome. We aim to contribute to timely and optimized prevention and treatment. The research is conducted in collaboration with both national and international researchers. We participate in national and international conferences and meetings with oral presentations and posters.