Definition
Noonan syndrome is an autosomal dominant genetic syndrome characterized by congenital heart defects, short stature, characteristic facial appearance, and pterygium colli.
Symptoms
- Congenital heart diseases such as pulmonary stenosis
- Short stature
- Hypertelorism, ptosis
- Developmental delay
Reasons
Gene mutations in the RAS/MAPK signaling pathway (PTPN11, SOS1, RAF1).
Diagnosis
Clinical criteria, genetic testing.
Treatment
Growth hormone, surgical treatment of cardiac anomalies, supportive care.
Which Polyclinic Should You Apply To?
Pediatric Cardiology Clinic or Genetics Polyclinic
What to Do in an Emergency?
In case of symptoms of heart failure due to congenital heart disease, emergency services should be consulted.
This page is for general information purposes only.