Noonan syndrome: symptoms, causes, treatment, etc. & bull; hello healthy

Definition

What is Noonan syndrome?

Source: Semantic Scholar

Noonan syndrome or Noonan syndrome is a birth defect caused by a genetic disorder with a variety of symptoms, such as heart defects and unusual facial features.

Noonan syndrome or Noonan syndrome is a congenital disorder or defect from birth that makes it difficult for the body to develop normally.

Apart from experiencing heart defects and unusual facial characteristics, this birth defect also makes the child appear to have a short stature and other physical problems.

Children with Noonan syndrome may also experience developmental delays.

The characteristics of the face in a child with Noonan syndrome include a deep indentation between the nose and mouth (philtrum), wide eye distance, and low ear location.

Children with Noonan syndrome also usually have a high arch in the roof of the mouth, untidy teeth, and a small lower jaw size (micrognathia).

Not only that, Noonan syndrome or Noonan syndrome is a congenital disorder that also makes babies born with short necks.

Babies with this condition also have excess neck skin and a low hairline at the back of the neck.

Although not always, almost the average child with Noonan syndrome is short until he is an adult.

A baby's weight and length or height at birth are normal, but their growth can slow down as they age.

How common is this condition?

Noonan syndrome or Noonan syndrome is a birth defect or disorder that prevents the body from developing normally. The exact number of cases is not known Rett syndrome or Rett's syndrome.

It's just that, based on the U.S National Library of Medicine, this condition is estimated to affect about 1 in 1,000-2,500 newborns with varying severity.

Noonan syndrome or Noonan syndrome is one of a variety of conditions known as RASopathies.

RASopathies are developmental syndromes that are caused by mutations or changes in genes. All of the medical conditions associated with these RASopathies generally have the same signs and symptoms.

Signs & Symptoms

What are the signs and symptoms of Noonan syndrome (Noonan syndrome)?

The symptoms of Noonan syndrome or Noonan syndrome can vary for each baby and child. The symptom severity of this condition can also range from mild to severe.

The difference in the characteristics of symptoms in Noonan syndrome is caused by specific genes that undergo mutations or changes.

The characteristic symptoms of babies born with Noonan syndrome are rather unusual facial features, short stature, heart defects, bleeding problems, bone malformations.

The various symptoms of Noonan syndrome or Noonan syndrome are as follows:

Facial characteristics

Distinctive facial characteristics are one of the main symptoms associated with Noonan syndrome or Noonan syndrome.

These facial features are usually more noticeable in infants and children. However, these characteristics can also change as the child gets older.

The facial features of Noonan syndrome or Noonan syndrome are very typical as follows:

Eyes that are too wide and tend to tilt downward (droop). The iris (the colored part around the eyeball) is pale blue or green.
Low ear position and slightly back.
The bridge of the nose is wide with a rounded tip.
The forehead is wide and protruding.
The eyes of a cross-eyed child.
The grooves of the upper lip (filtrum) are very deep.
Smaller lower jaw (micrognathia).
The neck tends to be short and widened with an excessive hump of neck skin. Low hairline at the back of the neck.
Uneven grooves or alignment of teeth.
The face looks gloomy and expressionless.
Skin looks thinner with age.

Growth disorders

About 50-70% of children with Noonan syndrome are short in stature. At birth they are usually of normal length and weight, but their growth will slow down as they get older.

That is why a child with Noonan syndrome will look shorter than other children his age. Noonan syndrome or Noonan syndrome is also a genetic disorder that can make babies born with swollen hands and feet.

This is caused by a buildup of fluid (lymphadema) in the hands and feet which can shrink over time.

Various other symptoms of growth disorders related to Noonan syndrome or Noonan syndrome are as follows:

It's hard to eat so it's hard for the child to gain weight.
Less than optimal growth hormone levels.
The growth spurt in children is delayed during adolescence.

Musculoskeletal disorders

Musculoskeletal disorders are problems that involve the function of the muscles, skeleton, nerves, joints and bones.

Children with Noonan syndrome often experience bone deformities characterized by a sunken breastbone (pectus excavactum) or a protruding sternum (pectus carinatum).

If you pay attention, the distance between the two nipples looks far away. In some cases, there are also children who experience scoliosis as a symptom of Noonan syndrome.

Heart problems

Most people with Noonan syndrome are also born with critical congenital heart defects.

The most common heart defect in children with Noonan syndrome or Noonan syndrome is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis).

Some have hypertrophic cardiomyopathy which enlarges and weakens the heart muscle. In addition, the rhythm or heart rate of children with this congenital disorder is usually irregular.

This irregular heart rhythm can occur with or without structural heart abnormalities.

Other symptoms

Various bleeding disorders are reported to occur in most children with Noonan syndrome.

Starting from excessive bruising, frequent nosebleeds, or prolonged bleeding after injury or surgery.

Adolescent boys born with Noonan syndrome usually fail to puberty. Therefore, most men with Noonan syndrome have undescended testes called cryptorchidism.

This undescended testicular condition can affect the fertility of teenage boys with Noonan syndrome or Noonan syndrome. While in women, usually the characteristics of puberty will come late.

Most children diagnosed with Noonan syndrome have normal cognitive abilities or intelligence.

However, some children may have intellectual disabilities that make them need special education.

Children with Noonan syndrome can also experience visual and hearing problems.

Vision problems in children with birth defects or disorders include problems with the eye muscles, being nearsighted, to experiencing cylinders (astigmatism).

The child may also have rapid eye movement and develop cataracts later in life.

When to see a doctor

Noonan syndrome or Noonan syndrome is a congenital disorder or defect that can cause symptoms of varying severity.

If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Noonan syndrome (Noonan syndrome)?

The cause of Noonan syndrome or Noonan syndrome is due to mutations or genetic changes that occur during the growth and development of the fetus in the womb.

Genes carry messages to make proteins that function in regulating various body functions. However, the presence of mutations or changes in genes can affect any function that these proteins have.

Noonan syndrome or Noonan syndrome occurs when at least 8 genes are damaged or change in function than they should be.

As a result, these conditions make the process of growth, development, and division of body cells disrupted.

The cause of mutations or changes in genes related to Noonan syndrome or Noonan syndrome can be caused by two things, namely passed down by parents or occurs randomly (spontaneously).

Babies have a 50% chance of being born with this syndrome if they inherit a mutated copy of the gene from one of their parents.

Noonan syndrome or Noonan syndrome is a genetic disorder or defect that is inherited in an autosomal dominant pattern.

According to the National Human Genome Research Institute, this means a child with Noonan syndrome has one copy of the gene from the parent.

However, parents do not have to have Noonan syndrome first to inherit this disease in future offspring.

In most cases, the parent is only the parent carrier of the gene mutation (carrier) who don't even realize they have the gene that triggers Noonan syndrome.

Apart from being congenital, genetic mutations can also occur randomly or spontaneously due to an incorrect genetic code formation program during conception.

This random genetic mutation is also known as "de novo".

Risk Factors

What increases your risk of getting Noonan syndrome (Noonan syndrome)?

The risk of a baby developing Noonan syndrome or Noonan syndrome increases when born with parents who also have this disorder.

Parents with Noonan syndrome have about a 50% chance of passing the mutation or gene change to their child.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

The diagnosis of Noonan syndrome or Noonan syndrome can be made by observing the typical symptoms on the examination of the newborn.

In some cases, however, Noonan syndrome may not be diagnosed until adulthood. A person only finds out that he has Noonan syndrome when his child will experience symptoms related to this genetic disorder.

Meanwhile, if a newborn has problems with the function of the heart organ, a heart specialist can help determine the type of disease and its severity.

What are the treatment options for Noonan syndrome (Noonan syndrome)?

Noonan syndrome or Noonan syndrome actually has no special treatment or treatment. However, this condition can be managed in certain ways according to the symptoms that appear.

For example, if the baby is also born with a heart defect, the heart problem can be treated with surgery.

Height problems can be corrected with growth hormone therapy so that their height can match other children in the same age.

In some children with Noonan syndrome, the facial muscles, especially the mouth, are weakened, which affects their ability to speak and eat.

Speech therapy can be done to overcome this problem by training the mouth muscles to move properly.

In boys, if the testicular condition is still not descended, it is usually treated with surgery or what is called orchidopexy action.

As people age, children with Noonan syndrome still need to be checked regularly to monitor their symptoms.

As he gets older there are usually no significant health barriers due to this condition. Children with this disorder can still live a normal life like other children their age.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.