Pediatric Noonan Syndrome
Noonan syndrome is a genetic disorder that prevents normal growth and development.
Noonan syndrome is a genetic disorder that can be inherited from one or both parents. Noonan syndrome prevents normal development and causes many problems throughout a child’s body. The most common problems include heart conditions and skeletal malformations.
Noonan syndrome is a genetic disorder, meaning that a gene inherited from one or both parents is defective. During fetal development, Noonan syndrome is caused by changes in one of several dominant genes.
Your child is at risk for Noonan syndrome if one or both parents carry the defective gene.
The most common symptoms of Noonan syndrome include:
- Bleeding disorders
- Congenital (present at birth) heart defect
- Deep groove between the nose and mouth
- Excess neck skin
- High-arched palate
- Low hairline at back of the neck
- Low set ears, rotated backward
- Scoliosis (abnormal spinal curve)
- Short neck
- Short stature
- Skeletal malformations
- Small lower jaw
- Sunken or protruding chest wall
- Wide spaced eyes