Noonan syndrome
Overview
Noonan syndrome is a genetic condition that can cause a wide range of distinctive features and health problems.
Causes
Noonan syndrome is caused by a fault in one of several genes. At least 8 different faulty genes have been linked to the condition so far. In some cases, the faulty gene associated with Noonan syndrome is inherited from one of the child's parents. The parent with the faulty gene may or may not have obvious features of the condition themselves. Only one parent needs to carry the fault to pass it on and each child they have has a 50% chance of being born with the condition. In other cases, the condition is caused by a new genetic fault that isn't inherited from either parent. In these cases, the chance of the parents having another child with Noonan syndrome is very small. Read more about thecauses of Noonan syndrome.
Treatment
There's currently no single treatment for Noonan syndrome, but it's often possible to successfully manage many aspects of the condition. For example, severe heart defects may need to be repaired with surgery, and growth hormone medicine may be used to help prevent restricted growth. Your child may need quite a lot of treatment and support to help manage the various problems they have. However, they'll usually need much less care as they get older, because the condition tends to cause fewer problems in adulthood. Read more abouttreating Noonan syndrome.