You or your child may be referred to a geneticist or a cardiologist.If your unborn child is at risk because of a family history of Noonan syndrome, prenatal tests may be available.In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). Noonan syndrome is a genetic disorder that causes heart defects, bleeding problems, distinct facial features, and more.
In adulthood, these distinct features become more subtle.Many people with Noonan syndrome are born with some form of heart defect (congenital heart disease), accounting for some of the key signs and symptoms of the disorder. Dec 2, 2016 - Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. Noonan syndrome can develop because of a new mutation in children who don't have a genetic predisposition for the disorder (de novo).
This is the most common problem with the heart seen with this syndrome.Abnormal thickening or growth of the heart muscle – affects 20% of those with Noonan syndrome.Individuals with this syndrome frequently have structural problems of the heart. These features may be more pronounced in infants and young children, but change with age.