Noonan Syndrome
Noonan syndrome is a relatively common genetic disorder caused by mutations in genes affecting the RAS-MAPK pathway. Features include distinctive facial appearance, short stature, heart defects, and variable developmental issues.
Table of Contents
Features
- Short stature
- Distinctive facial features
- Heart defects (especially pulmonary valve stenosis, hypertrophic cardiomyopathy)
- Bleeding tendency
- Learning difficulties in some
- Variable severity
Management
- Cardiology evaluation and follow-up
- Growth hormone if growth-deficient
- Educational support
- Coagulation evaluation before surgery
- Genetic counseling
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.
References
- NIH. Genetics Home Reference.