Neuro-cardio-facio-cutaneous syndromes. Overlapping phenotypes with a shared molecular pathway interdisciplinary health management

作者：Mautner V F^*; Nguyen R; Bernhard A; von Kodolitsch Y; Zenker M; Kutsche K

来源：Medizinische Genetik, 2010, 22(1): 10-19.

DOI：10.1007/s11825-010-0208-1

• Neuro-cardio-facio-cutaneous syndromes
• Hereditary disease
• RAS-MAPK pathway
• Interdisciplinary health management
• Psychosocial support

Recently, neuro-cardio-facio-cutaneous (NCFC) syndromes were defined as a group of hereditary diseases with phenotypical overlap based on a similar pathogenetic mechanism. These syndromes are associated with increased signal transduction down the RAS-MAPK (RAS: rat sarcoma, MAPK: mitogen-activated protein kinase) pathway. Noonan, LEOPARD, cardio-facio-cutaneous, and Costello syndrome as well as neurofibromatosis type 1 and Legius syndrome belong to the NCFC diseases. Interdisciplinary health management is essential to determine and establish adequate medical diagnostics and treatment and to provide psychosocial support for affected patients and their families.

• 出版日期2010-2