Noonan syndrome
Noonan syndrome may be suspected if your child has some of the signs and symptoms associated with the condition.
Theseinclude:
In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test will not rule out Noonan syndrome.
If Noonan syndrome has been confirmed or is strongly suspected, further testsare needed toestablish theextent of the symptoms. These tests may include:
Some of these tests may need to be repeated regularly after the diagnosis, to monitor the condition.
If you're pregnant, it may be possible to test your unborn baby for Noonan syndrome if:
Testing for Noonan syndrome during pregnancy involves collecting a sample of your baby's DNA and checking it for any of the faulty genes associated with the condition.
This can be done using either chorionic villus sampling (where a sample of cells is removed from the placenta)or amniocentesis (where a sample of amniotic fluid is removed). Both of these tests carry around a 1% chance of causing a miscarriage .
If your baby is found to have one of the faulty genes, agenetic counsellor will talk to you about what the test resultmeans and what your options are. .
Read about Noonan syndrome - a genetic disorder that causes a wide range of features, such as heart abnormalities and unusual facial features.
Read about the main features of Noonan syndrome, including unusual facial features, short stature and heart defects.
Read about what causes Noonan syndrome, and what the chances are of the condition being passed on.
Read about how Noonan syndrome is diagnosed, including what tests you or your child may have.
Read about the treatments available for the different problems associated with Noonan syndrome.