Which signaling pathway is often found faulty in individuals with Noonan syndrome?
The Ras/MAPK pathway proteins with germline mutations in their respective genes are associated with Noonan, LEOPARD, gingival fibromatosis 1, neurofibromatosis 1, capillary malformation-arteriovenous malformation, Costello, autoimmune lymphoproliferative (ALPS), cardio-facio-cutaneous and Legius syndromes.
How common is Noonan syndrome?
Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people.
How is Noonan syndrome diagnosed?
How is Noonan syndrome diagnosed? A doctor can diagnose Noonan syndrome with a physical examination and a review of the symptoms. In some newborn babies, Noonan syndrome is often suspected by the baby’s appearance. The doctor may order tests to identify genetic mutations or to look for heart defects.
Can you live a normal life with Noonan syndrome?
Life expectancy with Noonan syndrome is generally normal, but there may be health problems that need to be addressed with medical or surgical attention. Bleeding can result in blood loss, which can cause symptoms of fatigue.
How is Noonan syndrome treated?
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.
Who carries the gene for Noonan syndrome?
Noonan syndrome is caused by a faulty gene, which is usually inherited from one of the child’s parents.
How do you know if you have Williams syndrome?
Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.