Noonan Syndrome

Noonan syndrome

5 cards   |   Total Attempts: 189
  

Cards In This Set

Front Back
What is Noonan syndrome?
Noonan syndrome is a genetic disorder (autosoaml dominant) that invovle different parts of the body, characterized by short statue, unusual facial features, heart defects and developemnt problems.

What can cause Noonan syndrome?
Noonan syndrome can be caused by mutation in particualr one of eight genes
What heart defects are involved in Noonan syndrome
-Pulmonic stenosis
-hypertrophic cardiomyopathy
-ASD
-VSD
-PDA
Clinical syndromes of Noonan syndrome
Answer 4
-dysmorphic facial features
-pectus deformities and cubitus valgus
-Webbed neck

Treatment for Noonan Syndrome
There is no treatment for Noonan syndrome, but there is treatment for specific symptoms.