News Blog

A Spotlight on Noonan Syndrome

Feb 27, 2020 | Article

In advance and support of Rare Disease Day taking place this Saturday, February 29, we will continuing featuring rare diseases throughout the week to bring awareness to these uncommon, yet impactful illnesses. 

NOONAN SYNDROME (NS) is a multisystem disorder characterized by unusual facial characteristics, short stature, heart defects, developmental delays and other malformations. Furthermore, people with NS may experience pulmonary valve stenosis, lymphatic abnormalities, feeding and GI issues, oncology issues and much more. Due to the extreme variability of cases, NS must be comprehensively identified and managed through multidisciplinary care.

The history of NS stems from a pediatric cardiologist, Jacqueline Noonan, who identified nine patients with a similar pairing of specific conditions and symptoms back in 1962. The eponym “Noonan Syndrome” was put into effect in recognition of Dr. Noonan, as she was the first to indicate that this particular condition could occur in both genders, was associated with normal chromosomes, included congenital heart defects, and could be hereditary.

NS has since been grouped into a collective subset of related conditions known as RASopathies. These have similar signs and symptoms and are caused by changes in the same cell signaling pathway.

In reference to NS treatment and management, The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by Noonan Syndrome. The NSSG put together a conference of healthcare providers who had experience with the various aspects of NS, in order to develop guidelines for use by healthcare professionals in the diagnosis and management of those affected by NS.

We are proud to stand with all those affected by NS and other rare diseases to bring awareness to the causes and treatments and to help fight for improved lives for rare disease patients worldwide. Join us on #RareDiseaseDay.

 

Catalyst Clinical Research
Be the first to hear
about our latest news.