“Clinical features, diagnosis and management guidelines for those affected by Noonan syndrome”

Noonan syndrome (NS) is a common, predominantly inherited condition characterized by distinctive facial features, short stature, chest deformity, heart disease, and often other disease manifestations. Approximately 61% of NS cases can be explained by changes in the genetic make-up, the reason behind the remaining 39% is mostly unknown. Thus, NS frequently remains a clinical diagnosis. Because of the many different ways the condition can manifest itself and the need for multidisciplinary care, it is important that the condition be identified and managed properly and comprehensively. The Noonan Syndrome Support Group (TNSSG) is a non-profit organization committed to providing support, current information and understanding to those affected by NS. TNSSG convened a conference of health care providers, all involved in various aspects of NS; this documents summarizes the most updated information about the condition, written in laymen terms for patients, relatives and other interested parties. Introduction Noonan syndrome (NS) is a relatively common inborn disorder that affects 1 in 1,000 to 1 in 2,500 live births (0.1 to 0.025% of the population). Typical findings include distinctive facial features, short stature, chest deformity, and heart disease. The disorder can be inherited and can come from either parent. Until recently, diagnosis was based solely on clinical findings but genetic testing is now used to confirm the diagnosis of