February 29th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the ninth installment.
Day 9 – Noonan Syndrome
What is it? Noonan Syndrome (NS) is a congenital disorder considered to be a type of dwarfism. It affects both males and females equally. NS is often referred to as a “hidden” syndrome because the symptoms may go unnoticed, though, it’s effects may be many and differing in severity.
What effects does it have on the body? The potential effects of Noonan Syndrome are vast and varied. Two thirds of individuals with NS suffer from one of several heart defects, including cardiomyopathy (disease of the heart muscle). Other body systems that are affected are the gastrointestinal system, lymphatic system, musculoskeletal, blood, and neurological systems. NS also comes with a variety of physical characteristics such as short stature, widely set eyes, low set ears, deep philtrum and excess skin at the back of the neck among many other potential effects.
How is it diagnosed? NS is diagnosed based on clinical features. The individual can be screened for certain mutations, but the absences of such does not rule out a diagnosis of NS.
Where can I learn more? To learn more go to the Noonan Syndrome Support Group‘s website.
