Noonan Syndrome

Genetic Disorder Project by: Schuyler Winston

What is Noonan Syndrome?

Noonan Syndrome is a condition that affects many areas of the body. Area's including the face, heart, skeletal, bleeding problem, and short stature. The first report of this disease was reported in 1883 in Kobylinski. In 1968, it was adopted by Dr. Noonan and was named the Noonman Syndrome.

What type of disorder and inheritance.

This disease is an autosomal dominant genetic disorder. It is inherited in families in a pattern. Meaning that a person who has the syndrome has one copy of an altered gene that can cause the disorder.

Symptoms and Effects

A characteristic facial appearance, short stature, heart defect, a broad or webbed neck, bleeding problem, unusual chest shape, development , descended testes are all symptoms of Noonan Syndrome. The effect are mainly unusual face features, short stature, and heart defects.

Diagnosis, Prognosis, and Impacts

Doctors can usually determine is one has Noonan Syndrome by the physical appearance of the patient. They also use molecular genetic test or blood test to help determine if one has the disease or not. The life expectancy for Noonan Syndrome is normal, but most people with the disease have a heart disease. It impacts the person that has it because you could have learning disabilities, eye conditions, abnormal bleeding and or bruising, growth and eye issues, as well genital and kidney conditions.

Treatments

One thing that can be treated in Noonan Syndrome is the growth hormone treatment. Other symptoms in the disease can be treated based on what the patient wants treated and the severity of the symptom. Gene therapy is also possible.

Current Research

http://news.harvard.edu/gazette/2006/12.07/08-noonan.html

The researchers are trying to find a way to prevent this disease. With this information, they also could be able to expand their knowledge on cancer considering NS is composed of several types of leukemia and solid tumors.

Chrissy Welker

This is one video of a woman named Chrissy Welker. She was diagnosed with Noonan Syndrome and this is a video of her speaking at the Noonan Syndrome Foundation Conference in 2013.
Noonan Syndrome: Chrissy Welker's Story - Noonan Syndrome Foundation Conference 2013

5 Facts/Summary

1. It is a genetic disorder that can cause short stature.

2. Causes face and heart abnormalities.

3. It is inherited as an autosomal dominant disease.

4. There is no cure

5. It can be associated with bleeding disorders, scoliosis and lymphedema.

Rebecca's Story / Parents

Rebecca was born with a severe form of NS. Over the years, her mother wrote out her story. As Rebecca became older, her story was told many times. Some examples of where her story has been published are newspapers, magazines, and the Disney Adventure Magazine. Rebecca would not give up on herself. She is acknowledged for her bravery, strength, and volunteerism.

https://globalgenes.org/raredaily/our-stories-do-make-a-difference-rebecca-with-noonan-syndrome/

Sources