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Many are highly complex, childhood\u2010onset, multi\u2010system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family\u2010centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams\u2013Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long\u2010term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease\u2010related complications. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35982","type":"journal-article","created":{"date-parts":[[2013,5,21]],"date-time":"2013-05-21T20:55:57Z","timestamp":1369169757000},"page":"1666-1674","source":"Crossref","is-referenced-by-count":40,"title":["Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams\u2013beuren syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Andrea","family":"Van Lierde","sequence":"first","affiliation":[{"name":"Pediatric Clinic 1, Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di 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