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Table 1 The 2020 EAF guiding principles of management for achondroplasia

From: The first European consensus on principles of management for achondroplasia

Item Guiding principle Vote (%) Level of agreement (mean; range)
A Achondroplasia is a lifelong condition requiring lifelong management by an experienced MDT, led by physicians/clinicians experienced in achondroplasia management. Close monitoring during the first 2 years of life is critical 92 8.9 (8–10)
B When a diagnosis of achondroplasia is made or suspected, either in utero or after birth, the family should be referred as soon as possible to a physician experienced in achondroplasia to discuss the prognosis and management of the condition 100 9.3 (8–10)
C Decisions around management should be made in the MDT setting jointly with the person with achondroplasia and/or their family 100 9.6 (7–10)
D The primary goals of management are to enable anticipation, identification and treatment of problems, provide education and support to encourage a healthy lifestyle, positive self-esteem and mental health, autonomy and independence 100 9.2 (8–10)
E Patients should have access to a variety of adaptive measures, support to ensure proper usage and access to approved treatment options as they become available 91 8.5 (5–10)
F Regular monitoring in adolescence and adulthood should continue under an MDT with expertise in achondroplasia management. Care should include genetic counselling, transition to adulthood, psychosexual well-being and management of pregnancy 100 9.3 (8–10)