What Is Noonan Syndrome?

By james

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Our genetics help to determine a great deal about how we develop physically and mentally. Errors in copying DNA can happen during procreation, however, and some people are born with certain genetic disorders. One example of these conditions is Noonan syndrome, which occurs quite rarely.

Noonan syndrome causes people to take on different physical and facial characteristics than other people. It can also cause them other issues such as having problems with certain vital organs, as well as experiencing some mental difficulties. The symptoms can range in severity, and many people with the condition will live a relatively normal life.

1. Unusual Facial Features

We all have different facial features. It is usually easy to recognize an individual out of millions of different faces, although some people can look extraordinarily similar to others. Some people with certain medical conditions are even more likely to stand out from the crowd.

People with Noonan syndrome are likely to have eyes that are set lower than other peoples. Their nose is likely to be sunken in at the top and they are likely to have a wider tip. In addition, the nose overall is likely to be wider. They are also likely to have a larger head than usual, with a low hairline at the back and a prominent forehead.

2. Musculoskeletal Issues

A strong and well-formed skeleton is very important for our overall well-being. It helps to ensure that we are as mobile and strong as possible and also helps to ensure the smooth functioning of various bodily functions. Some people, however, are born with conditions that mean they don’t develop as well as they should.

People with Noonan syndrome will find that they have nipples set wider apart than usual, and an unusually shaped chest with a raised or sunken sternum. Some will have a deformed spine, while others will also have a shorter than usual neck, prominent trapezius muscles, or a webbed neck.

3. Learning Disabilities

Some children are simply better than picking things up then other children are. Regardless, most “healthy” children still tend to sit within a certain range of abilities when it comes to learning. Children with Noonan syndrome, however, can fall below the normal ranges.

The majority of people with the condition will thankfully not experience learning difficulties. Some will experience a range of behavioral, emotional, and mental issues, but these are usually only mild. In addition, they may have sight and hearing difficulties that can make learning more difficult for them.

4. Heart Conditions

It doesn’t take a medical expert to know that our heart is one of our most important organs. It is important that they are fully functioning for optimal health, but some people are born with deformities of the heart. This includes many people born with Noonan syndrome.

Heart conditions associated with Noonan syndrome include the heart muscle growing thicker than it should do. Valve disorders are also fairly common, along with narrower than usual vessels, and a hole in the walls between chambers. Most people with Noonan syndrome will experience an irregular heartbeat, regardless of whether or not they have other heart conditions.

5. Excessive Bleeding

Flowing through the blood of a healthy person are small cells that are known as platelets. These perform a very important function because, in conjunction with certain hormones, they help the blood to clot to prevent bleeding.

For some people with Noonan syndrome, the system does not work as well as it does with other people. Some people with the condition can have too few platelets, meaning the blood will take longer to clot. Some will have other clotting defects that will mean it is important to be extra careful that they don’t hurt themselves. In addition to external bruising, people with the condition are also likely to bruise more easily.

6. Lymphatic Conditions

The lymphatic system makes an essential part of our overall immune system. Lymph nodes help to filter pathogens and other toxins from the system, helping to keep us safe from disease. Throughout the lymphatic system is a fluid known as lymph, which also helps to keep us safe. Noonan syndrome can cause problems with this system.

One of the most common problems is excess lymph fluid and this can cause edema (swelling). Such conditions can be present from birth, while they might also develop as the child gets older. They can also be localized in one part of the body or they can affect the whole body.

7. Eye Conditions

Most people are born with perfectly functioning eyes, although it is quite common for our eyesight to worsen as we get older. In the modern world, this is not usually a problem for us because there are numerous treatments that can help to restore sight.

People with Noonan syndrome are more likely to be born with eye conditions that can hinder their eyesight. These include, but are not limited to, astigmatism, hyperopia, myopia, crossed eyes, and cataracts. Fortunately, most of these conditions are treatable with surgery, or with correction equipment such as spectacles and contact lenses. Very few people will lose their eyesight altogether.

8. Genital Conditions

Our genitals, both male and female, are very important when it comes to reproduction. For most people, reproduction is fairly simple and we even have to take steps to ensure we don’t have too many children. It is not as straightforward for many people that have Noonan syndrome.

Many boys and girls with the condition will begin puberty later than they otherwise would, and many boys will find that their testicles do not descend at all. Undescended testicles means that many men with Noonan syndrome will be infertile, but women with the condition will usually be able to have children.

9. Kidney Conditions

Our kidneys do a very important function because they help to keep our blood clean, filtering out toxins. We cannot live without them and faulty kidneys can affect our health. Some people are born with kidneys that do not function fully, and this includes some people with Noonan syndrome.

While people with Noonan syndrome are more prone to having kidney problems, these problems are fortunately likely to be only mild. Those that do have kidney problems will likely need to be careful in terms of lifestyle, such as avoiding alcohol and other food or drinks that can put a strain on their kidneys.

10. Growth

It is important that young children are given all the nutrition and stimulus that they need to grow as big and strong as possible. Even if some kids do have all they need, though, it is no guarantee that they will develop as they should. This is particularly the case if they are born with certain conditions, including Noonan syndrome.

Children with Noonan syndrome are likely to be born at a normal weight, but will not grow as quickly as other children. Any growth spurts that come with adolescence are likely to occur later and eating difficulties can also hinder their growth. Some will also have lower levels of growth hormones than others.