Marfan syndrome is a disorder of connective tissue primarily involving the heart, eyes and skeleton. The incidence is approximately 2-3/10,000, with no known gender or race predisposition. This may be considered relatively rare, but the major heart-related complication is progressive enlargement of the aorta, with the risk of rupture, dissection and sudden cardiac death. For children with Marfan syndrome, as many of the diagnostic criteria are adult based and sometimes without a definite family history, the evolving clinical diagnosis can be difficult, leaving families unsure and anxious about the diagnosis. Other connective tissue disorders also prone to progressive aortic root enlargement, like Loeys-Dietz and Ehlers-Danlos syndromes, are being increasingly described. The specialized needs of these families were recognized at the Hospital for Sick Children in Toronto, Canada and a Marfan and Connective Tissue Disorders Clinic was created. This clinic is now well established and continues to evolve as the patient population increases towards the development of a multidisciplinary clinic. The role of the Clinical Research Nurse Coordinator has been developed to assist in screening these families, to improve patient care and quality of life, to provide up-to-date information and education, to liaise with the relevant support organizations and to promote clinical research in the clinic. Areas for continued development for the clinic are providing more access to web-based information for these families and to their caregivers to help increase awareness of Marfan syndrome and related connective tissue disorders in the community.