Rare Disease 22 - Noonan Syndrome

From Wikipedia:

Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. It is a RASopathy, as the syndrome is in the family of RAS-MAPK pathway disorders.
It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.



The Noonan Syndrome Support Group has many patient stories.  I happened to randomly pick Misty and Matt and their son Logan.  While reading their story, I realized that they did what many parents do - they did their own research and demanded their son be tested for a disease which everyone has "ruled out" because the symptoms don't fit the profile.


Here is an awareness video on Noonan Syndrome:





The "cheat sheet" about Noonan Syndrome from the National Library of Medicine is here.


Noonan Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments.  Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.

Rare Disease Day is February 28, 2013.