Noonan syndrome
ORPHA:648· ICD-10 Q87.1
Definition
A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal