Noonan Syndrome (NS) and Noonan Syndrome with Multiple Lentigines (NSML)

Noonan syndrome (NS) and Noonan Syndrome with Multiple Lengitines (NSML) are caused by dominant genetic mutations that prevent normal development of various parts of a child’s body. A child affected by NS or NSML can manifest a variety of conditions including unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays. Close 20,000 children are affected by NS.

Noonan Syndrome (NS)

Symptoms & Conditions

Facial

Unusual facial appearance is one of the key clinical features that leads to a diagnosis of Noonan syndrome. Most common facial conditions include:

Heart Disease

Many people with Noonan syndrome are born with some form of congenital heart disease. Some heart problems can occur later in life. Most common heart conditions include Hypertrophic Cardiomyopathy, Myocardial Fibrosis, and Pulmonary Valve Stenosis.

Growth

Noonan syndrome can affect normal growth and can have reduced height because of insufficient level of hormone deficiency and eating difficulties.

Other NS conditions include:

  • Musculoskeletal issues
  • Eye conditions
  • Hearing problem
  • Bleeding
  • Lymphatic conditions
  • Genital and kidney conditions
  • Learning disability

Noonan Syndrome with Multiple Lentigines (NSML)

People suffering from Noonan Syndrome with Multiple Lentigines (NSML) can exhibit additional conditions like:

  • Lentiginosis (spots)
  • Cryptorchidism
  • Deafness

Prevention and Treatment of Noonan syndrome

Current treatment of Noonan syndrome is directed toward the specific complications that are apparent in each individual. Management of Noonan syndrome typically focuses on controlling the disorder’s symptoms and complications by a team of healthcare professionals.

Low-Dose Dasatinib Therapy

IGIA Pharmaceuticals is focusing on low-dose Dasatinib (IG-100) as a unifying therapy for cardiac disease in NS and NSML Infants. Dasatinib, developed by BMS and marketed as Sprycel©, is FDA-approved for some children with CML (November 2017).

Learn about the science of Dasatinib and our pipeline.

For more resources:
www.rasopathies.net (nonprofit patient foundation)
mayoclinic.org (there is a good Noonan Syndrome page about the disease)