Noonan syndrome an overview and a case description from Astana, Kazakhstan

Abstract

Noonan syndrome is an autosomal dominant genetic disorder characterized by facial dysmorhpic features, short stature and heart defects, such as pulmonary valve stenosis and heart hypertrophy (Roberts et al., 2013). The pathologic features are caused by the genetic mutations in the RAS-MAPK pathway signaling proteins, such as PTPN11. These mutations also predispose Noonan patients to risks of developing cardiovascular, myeloproliferative, lymphatic system disorders. Therefore we recommend raising awareness and increasing vigilance for these cases as the Noonan syndrome patients require special care of a multidisciplinary team of healthcare professionals to address their multiple health concerns and improve their outcomes.

Keywords

• Noonan syndrome
• rare disease
• genetic disease
• RAS-MAPK mutation
• PTPN11 mutation
• Noonan Syndrome in Kazakhstan