What is Noonan syndrome caused by?
Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there’s no family history involved.
What is the survival rate of Noonan syndrome?
Overall, late survival in children with Noonan syndrome and cardiac defects was good (91 ± 3% at 15 years), although significantly worse for those with Noonan syndrome-HCM (P < . 01).
What is the life expectancy of a child 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.
What is similar to Noonan syndrome?
Among them, LEOPARD syndrome (PTPN11, RAF1 and BRAF), Noonan-like syndrome with loose anagen hair (SHOC2), neurofibromatosis-Noonan syndrome (NF1), cardiofaciocutaneous syndrome (BRAF, KRAS, MEK1 and MEK2), and “CBL mutation-associated” syndrome (CBL) are the most close.
Can Noonan syndrome be cured?
There’s no cure for Noonan syndrome, but medical care can help with almost every symptom. For example: Medicines and surgery can help heart problems. Medicines or blood transfusions can treat bleeding.
Is Noonan syndrome a disability?
Noonan syndrome is a genetic condition that typically includes heart abnormalities and characteristic facial features. About one-third of affected children have mild intellectual disability.
What are the treatments for Noonan syndrome?
How Is Noonan Syndrome Treated?
- Medicines and surgery can help heart problems.
- Medicines or blood transfusions can treat bleeding.
- Growth hormone can help speed up slow growth.
- Surgery can correct undescended testicles.
- Education programs can help a child who has trouble learning.
Is Noonan syndrome curable?
Can amniocentesis detect Noonan syndrome?
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).
Is Noonan syndrome serious?
Noonan syndrome can range from being very mild to severe and life-threatening. In many cases, the problems associated with the condition can be successfully treated at a young age or become less prominent over time.
How do you confirm Noonan syndrome?
In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations….These include:
- distinctive facial features.
- short stature (restricted growth)
- a mild learning disability.
- undescended testicles.
- heart problems.
- a family history of Noonan syndrome.