TY - JOUR T1 - RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature JF - Archives of Disease in Childhood JO - Arch Dis Child SP - 724 LP - 730 DO - 10.1136/adc.2009.160069 VL - 95 IS - 9 AU - Emma M M Burkitt Wright AU - Bronwyn Kerr Y1 - 2010/09/01 UR - http://adc.bmj.com/content/95/9/724.abstract N2 - The disorders described as the neuro-cardio-facio-cutaneous conditions (NCFCs) may all present with symptoms that are common in paediatric practice. They result from germline mutations in genes encoding kinases and other proteins interacting in the RAS-MAPK pathway. This review summarises these disorders, discussing their presenting features and clinical course, identifying overarching similarities and, conversely, features that can help to discriminate one condition from another. The genetic basis and importance of precise clinical diagnosis and molecular diagnostic confirmation when possible is discussed, given each condition's different prognosis, and the need to remain vigilant for specific complications. ER -