Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A child may be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical problems, and sometimes mental retardation.

Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent. It can also occur as a spontaneous mutation in a child, meaning there's no family history involved.

There's no specific treatment for Noonan syndrome. Management focuses on controlling the disease's symptoms and complications. Growth hormone may be used to treat short stature in some people who have Noonan syndrome.

Facial features
The way your child's face appears is one of the key clinical features leading to a diagnosis of Noonan syndrome. These features change depending on the age of your child:

• Early infancy. A baby less than 1 month old may have wide-set and down-slanting eyes, low-set ears, a deep groove and wide peaks in the upper lip, a short neck and a low hairline on the back of the head.
• Infancy. An infant may have prominent eyes with a downward slant and thickened lids, and a depressed root of the nose with a wide base and bulbous tip.
• Childhood. There is often a lack of facial expression.
• Adolescence. An adolescent's face is typically wide at the forehead tapering to a pointed chin, the facial features become sharper and the eyes are less prominent, and the neck lengthens to reveal skin webbing or prominent neck (trapezius) muscles.
• Adulthood. When a child with Noonan syndrome reaches adulthood, the crease that runs from the edge of the nose to the corner of the mouth becomes prominent and the skin may be wrinkled and appear transparent.

Heart disease
More than half of people with Noonan syndrome have congenital heart disease, accounting for some of the key signs and symptoms. Pediatric cardiologists may be the first doctors to see children with Noonan syndrome. Some forms of congenital heart disease are more common when associated with this disorder:

• Pulmonary valve stenosis. This is the most common heart problem seen with Noonan syndrome. Pulmonary valve stenosis is a narrowing of the pulmonary valve, the flap of tissue that separates the lower right chamber (ventricle) of your heart from the artery that supplies blood to the lungs (pulmonary artery). The defect may occur by itself, or there can be additional associated defects.
• Hypertrophic cardiomyopathy. This is abnormal growth or thickening of the heart muscle that affects as many as 30 percent of people with Noonan syndrome.
• Structural defects. People with Noonan syndrome often have structural defects of the heart. The defects involve a hole in the wall that separates the two lower chambers of the heart (ventricular septal defect), or a condition that causes a narrowing of the arteries that carry blood to the lungs for oxygen (pulmonary artery stenosis).

Growth issues
Your child's birth weight will likely be normal, but some children have difficulty with feeding, which can cause poor weight gain until about 18 months. The growth spurt that's usually seen during adolescence may be delayed in your child, but because this disease causes bone maturity to be delayed, your child has the potential to continue growing into his or her 20s. By adulthood, about one-third of people with Noonan syndrome have normal height, but short stature is more common.

Musculoskeletal issues
An unusually shaped chest often with a sunken sternum (pectus excavatum) or raised sternum (pectus carinatum) often occurs in those with Noonan syndrome. Wide-set nipples and a short neck, often with extra folds of skin (webbed neck), also are common. Low muscle tone also may be present.

Learning disabilities
Many children with Noonan syndrome get along without difficulty in school — significant mental retardation is uncommon. About one-third of those with Noonan syndrome may have mild mental retardation. Still, it's not uncommon for people with Noonan syndrome to go on to college, and some have earned advanced degrees.

Eye problems
Nearly all people with Noonan syndrome have abnormalities of their eyes and eyelids. Differences in the shape and size of the eyes are hallmark features. Often the iris is pale blue or green. Problems with the eye muscles (strabismus, or crossed eyes), refractive problems — astigmatism, nearsightedness (myopia), hypermetropia, rapid movement of the eyeballs (nystagmus) and problems with the nerves of the eyes are common.

Bleeding
Most people with Noonan syndrome have a history of abnormal bruising or bleeding. Sometimes the bleeding problem isn't discovered until a person has surgery and experiences excessive bleeding (hemorrhage).

Lymphatic problems
Noonan syndrome can cause problems with the lymphatic system, which drains excess fluid from the body and helps fight infection. These problems can show up before or after birth and can be focused in a particular area of the body or may be widespread. The most common problem is excess fluid (lymphedema) on the back of the hands or top of the feet.

Genital and kidney problems
Many people, especially males, with Noonan syndrome can have problems with the genitals and kidneys. Kidney problems are generally mild and occur in a fairly small number of people with the syndrome. Puberty may be delayed in both boys and girls, but most females usually develop normal fertility. In males, however, fertility may not develop normally — often because of undescended testicles, a condition that's common in males with Noonan syndrome.

Skin problems
Various problems that affect the color and texture of the skin are common. There's also a tendency to develop thick scars after surgery. People with Noonan syndrome often have curly, coarse hair, or sparse hair.

When to see a doctor
The signs and symptoms of Noonan syndrome can be subtle. If you suspect you or your child may have the disorder, see your primary care physician or your child's primary care pediatrician. He or she may then refer your child to a pediatric geneticist or a pediatric cardiologist. Noonan syndrome can be detected with molecular genetic testing. If your unborn child is at risk because of a family history of Noonan syndrome, prenatal tests may be available.

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Autosomal dominant inheritance pattern

It's estimated that Noonan syndrome occurs in one of 1,000 to 2,500 births. The cause is a mutation in a particular gene. Currently, scientists know of four genes that can cause Noonan syndrome. The mutation can be inherited from a parent who carries the defective gene (autosomal dominant), or it can develop because of a new mutation in children who don't have a genetic predisposition for the disease. Children who have one parent with Noonan syndrome have a 50 percent chance of developing the disorder.

The four known genes that may mutate and cause Noonan syndrome are:

• PTPN11 gene. About half the people with Noonan syndrome acquire the disorder because of a mutation of a gene called PTPN11.
• SOS1 gene. As many as 20 percent of people with Noonan syndrome have the condition because of a defect in this gene.
• RAF1 gene. This gene is responsible for up to 15 percent of all cases of Noonan syndrome.
• KRAS gene. About 5 to 10 percent of people acquire the disorder because of a mutation in the gene KRAS. People with this type of mutation may have a more severe form of Noonan syndrome.

Defects in these genes cause them to produce proteins that are continually active. Because these genes play a role in the formation of many tissues throughout the body, this constant activation of their proteins disrupts the normal process of cell growth and division.

In some people, none of these genes have a mutation, which may mean that some other, still undiscovered genes cause Noonan syndrome. In rare cases, people who have Noonan syndrome characteristics also have another condition called neurofibromatosis 1. People with these two conditions have a mutation in the neurofibromin 1 gene, which produces a protein that helps keep cells from growing too fast or in an uncontrolled way.

Many of the symptoms associated with Noonan syndrome are treated just as they would be for anyone else experiencing a health problem. Taken together though, the many problems this disorder can cause require coordinated management of various symptoms by your doctor and medical specialists who also may be part of your health care team.

Complications can arise that may require special attention, including:

• Developmental issues. If your child is affected developmentally, he or she may have difficulty with organization and spatial sense. Sometimes the developmental challenges are severe enough to require a special plan of action to address your child's learning and educational needs.
• Bleeding and bruising. Noonan syndrome can cause excessive bleeding and bruising. This can create problems during surgery or dental work. If excess bleeding and bruising affect you, avoid aspirin or aspirin-containing products because aspirin can thin your blood. Children in general need to avoid aspirin because of its association with Reye's syndrome.
• Complications from lymphatic problems. Sometimes fluid can collect in the cavity around the heart and lungs, requiring a chest tube to drain. If the draining is prolonged or needs to be repeated, this can sometimes result in weight loss or infection, and this in turn can lead to additional complications.
• Genital and urinary tract complications. Males may have a low sperm count and other fertility problems because of undescended testicles (cryptorchidism). Structural abnormalities in the kidneys may increase the rate of urinary tract infections.

You're likely to start by first seeing your family doctor or your child's pediatrician. However, depending on the signs and symptoms, you or your child may be referred to a specialist. For example, if you or your child has signs and symptoms of heart disease, you'll likely be referred to a cardiologist.

Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well prepared for your appointment. Here's some information to help you get ready for your appointment, and what to expect from your doctor.

What you can do

• Write down any symptoms you or your child is experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
• Make a list of any medications, as well as any vitamins or supplements, that you or your child may be taking.
• Write down questions to ask the doctor.

Your time with the doctor is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For Noonan syndrome, some basic questions to ask your doctor include:

• What's the most likely cause of these symptoms?
• Are there any other possible causes?
• What kinds of tests can diagnose Noonan syndrome?
• What other problems might occur because of Noonan syndrome?
• What's the best course of action for treating Noonan syndrome?
• What are the alternatives to the primary approach that you're suggesting?
• I have these other health conditions. How can I best manage them together?
• Are there any restrictions that I or my child needs to follow?
• Should I see a specialist or take my child to a specialist?
• Are there any brochures or other printed material that I can take home with me? What Web sites do you recommend visiting?
• If the diagnosis of Noonan syndrome is confirmed, is there a support group or parent support group in my area?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.

What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

• When did you or your child first begin experiencing symptoms?
• Have your or your child's symptoms been continuous, or occasional?
• Does anything seem to improve your or your child's symptoms?
• Does anything appear to worsen the symptoms?
• Do you have any family members who've had congenital heart disease, bleeding problems or short stature?

A diagnosis of Noonan syndrome is usually made after a doctor observes some of the key signs and symptoms of the disease, but this can be difficult because some of the features associated with this disorder are subtle and can be hard to identify. Many times, Noonan syndrome isn't diagnosed until adulthood, after a person has a child who is more obviously affected by the condition. Molecular genetic testing can be used to make a definitive diagnosis.

If there's evidence of heart problems, your doctor will likely recommend an electrocardiogram (ECG) and an echocardiogram to assess the type and severity of the condition. The ECG involves placing electrodes on your chest. An ECG looks at the electrical impulses that travel through your heart to assess problems. An echocardiogram uses sound waves to create a moving image of your heart working so that your doctor can see where there may be problems. These tests are usually done by a doctor who specializes in heart conditions (cardiologist).

Treatment of the symptoms and complications that occur with Noonan syndrome depends on their type and severity. Many of the health and physical issues associated with this disease are treated just the way they are in the general population.

The treatment approach that your doctor may recommend to address various aspects of Noonan syndrome may include:

• Heart treatment. Certain drugs may be effective in addressing some kinds of heart problems. If there's a problem with your heart's valves, surgery may be necessary. Your dentist may recommend preventive use of antibiotics prior to dental cleaning or surgeries. Your doctor may also recommend that your heart function be evaluated periodically.
• Treating low growth rate. Many children with Noonan syndrome don't grow at a normal rate. Your child should be measured at every routine well child visit and at least every six to 12 months to make sure he or she is growing. Noonan syndrome often causes eating difficulties, and your child may not be getting adequate nutrition. Your doctor will likely be checking your child's blood chemistry, thyroid function, bone growth and hormone levels. If your child's growth hormone levels are insufficient, growth hormone therapy may be a successful treatment option.
• Addressing learning disabilities. A wide range of mental and behavioral issues can occur with this condition. Fortunately, there are many successful ways of coping with what are usually mild symptoms. If you discover early that your child has developmental delays, ask your doctor about infant stimulation programs. Physical and speech therapies may be helpful for addressing a variety of possible symptoms. In some cases special education or individualized teaching strategies may be appropriate.
• Vision treatments. Because many people with Noonan syndrome have vision problems, your child will need regular eye exams. Most eye issues can be treated with glasses only. Surgery may be needed for some conditions, such as cataracts.
• Treatment for bleeding and bruising. If you or your child has a history of easy bruising or excessive bleeding, avoid aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help the blood to clot.

• Treatment for lymphatic problems. Although lymphatic problems are a less common symptom, the many ways in which they can occur can make finding the problem and then treating it a challenge. Complications usually involve excess fluid that gets stored in various places in your body.

  Sometimes fluid can collect in the space around your heart and lungs. If this happens, your doctor may want to insert a tube into your chest to drain the fluid. To prevent this problem, your doctor may suggest you modify your diet. Sometimes surgery is necessary if swelling around the heart and lungs persists.

• Treatment of genital and urinary tract problems. If your son has undescended testicles at birth, your doctor will likely refer you to an experienced surgeon to consider whether an injection of human chorionic gonadotrophin or surgery is appropriate. It's best for your child to receive such treatment before he enters school. Another common problem in males with Noonan syndrome is that their testicles don't function properly, in which case testosterone replacement may be an option.

  If a urinary tract infection occurs, treatment is with antibiotics.

A number of support groups are available for people with Noonan syndrome and their families. Talk to your doctor about finding a support group in your area. There are also good resources on the Internet that can direct you to local support groups and sources of information about this disease.

If you have a family history of Noonan syndrome, talk to your doctor and undergo genetic counseling before you have children. However, because many of the cases of this disease occur spontaneously, there's no known way to prevent it.

If Noonan syndrome is detected early, it's possible that ongoing and comprehensive care may lessen some of its complications, such as heart disease.