Noonan syndrome
Noonan Syndrome
Noonan Syndrome (pronounced /nuːnən/), is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a myriad of ways, including unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
Etymology
The syndrome is named after Jacqueline Noonan, a pediatric cardiologist at the University of Kentucky. Dr. Noonan first identified the syndrome in 1963 when she observed common physical characteristics among children with congenital heart disease.
Symptoms
Noonan syndrome is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. Some of the common symptoms include:
- Facial abnormalities: Many individuals with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are often pale blue or blue-green in color, and low-set ears that are rotated backward.
- Heart defects: Many people with Noonan syndrome are born with heart defects. The most common is a condition called pulmonary stenosis, which is a narrowing of the pulmonary valve.
- Growth delays: Most children with Noonan syndrome have normal birth weights, but growth slows over time. This results in short stature.
- Learning disabilities: While most individuals with Noonan syndrome have normal intelligence, some may experience learning disabilities and delays in speech and language skills.
Causes
Noonan syndrome is a genetic disorder that is typically inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to express the disorder. It is commonly caused by mutations in the PTPN11, SOS1, RAF1, and RIT1 genes.
Diagnosis
Diagnosis of Noonan syndrome is often based on the distinctive facial features, heart problems, and short stature. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Noonan syndrome is focused on controlling the symptoms and may include surgery for heart defects, growth hormone therapy for short stature, and educational support for learning disabilities.
See also
External links
- Medical encyclopedia article on Noonan syndrome
- Wikipedia's article - Noonan syndrome
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