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.

Complications of NS can include These defects include a hole in the wall which splits up the lower 2 chambers of the heart – ventricular septal defect, or another condition causing arteries to narrow – pulmonary artery stenosis.The child’s birth weight will more than likely be normal but many of these children have problems with feeding causing poor gain of weight until about 18 months old. Advertising revenue supports our not-for-profit mission.Check out these best-sellers and special offers on books and newsletters from Mayo Clinic. Because these genes play a role in the formation of many tissues throughout the body, this constant activation of proteins disrupts the normal process of cell growth and division.A parent with Noonan syndrome has a 50 percent chance (one chance in two) of passing the defective gene on to his or her child. Though it is among the most common genetic syndromes related to cardiac problems, the severity and range of the characteristics vary greatly. Limited studies of health-event patterns submit that life expectancy is reduced by approximately 10 years.Hi, is this syndrome leading to fetal death (IUFD)? "Mayo," "Mayo Clinic," "," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. These mutations can occur in multiple genes. Many children with Noonan syndrome don't grow at a normal rate. Noonan syndrome Picture 4. . Most issues are treated the same way they are in the population generally.The approach that might be recommended to deal with various problems with this syndrome can consist of:Some drugs can be very effective in the treatment of different types of heart problems. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. There can be problems with the muscles of the eye, refractive problems, movement of the eyes that is rapid and problems with the eye nerves.Individuals with this syndrome have a history of bleeding or bruising that is abnormal.This system drains fluid that is excess from the body and aids in fighting infection. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.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). Pediatric cardiologists are normally the first physicians to see those with Noonan syndrome. It can also occur as a spontaneous mutation, meaning there's no family history involved.Management of Noonan syndrome focuses on controlling the disorder's symptoms and complications. Growth hormone can be needed to manage short stature in certain individuals with this syndrome.The way an individual’s face appears is one of the main clues which leads to the diagnosis of this syndrome. Those with this syndrome can have coarse, curly hair or hair that is sparse.The treatment of the complications as well as the symptoms which develop with this syndrome hinge on the type as well as the severity. The child who inherits the defective gene may have fewer or more symptoms than the affected parent.Complications can arise that may require special attention, including:Because some cases of Noonan syndrome occur spontaneously, there's no known way to prevent it.

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.