There are no parents who want their children to be born disabled. Even so, there are many unexpected factors that can cause a baby's birth defects. These factors are also often not an intentional factor by parents. Noonan syndrome is one of the rare genetic disorders that can cause babies to be born disabled. In some cases, this condition can not be diagnosed until the child grows up.
Noonan syndrome is a rare birth defect
Noonan syndrome is a birth defect caused by a genetic disorder with a variety of symptoms, such as heart abnormalities and unusual facial forms.
It is estimated that 1 in 2500 children in the world are born with Noonan syndrome with varying severity.
What are the causes of Noonan syndrome?
The cause of Noonan syndrome is a gene mutation that occurs during the development of the fetus in the womb. Genes carry messages to make proteins that function to regulate bodily functions. Gene mutations can affect any function that protein has. Noonan syndrome occurs when there are at least 8 genes that are damaged or function changes from the proper ones.
Babies have a 50% chance of being born with this syndrome if they inherit copies of gene mutations from one of their parents. Parents do not have to have Noonan syndrome to inherit it to the next offspring. In most cases, the parent is only the parent carrier of the gene mutation (carrier) that doesn't even realize they have the gene that triggers Noonan syndrome.
Besides being due to parental factors, genetic mutations can also occur spontaneously caused by errors in the genetic code formation program that occurs during fertilization
What are the symptoms and signs of Noonan syndrome?
Characteristics of babies born with Noonan syndrome are rather unusual facial features, short stature, heart defects, bleeding problems, bone malformations. There are still many other signs and symptoms that can appear varying in each baby.
The face shape of Noonan syndrome is very typical, namely:
- Wide forehead.
- Cross eyes.
- Eyelids droop (sag).
- Deep curves of the upper lip (filtrum or orange).
- The eyes are too wide and "separated" by pale blue or greenish-blue skin in the middle.
- The neck tends to be short and wide, with excessive neck skin hump and low hairline on the back of the neck.
- Cleft lips.
- Uneven tooth flow.
- Low ear position.
- Smaller lower jaw (micrognathia).
As many as 50-70% of people with Noonan syndrome have short stature. At birth they are usually long and the weight looks normal, but the growth will slow down even though they get older. So children with Noonan syndrome will look shorter than other children his age. Babies with Noonan syndrome can also be born with swollen hands and feet caused by fluid buildup (lymphadema), which can deflate itself over time.
In addition, people with Noonan syndrome often experience bone deformities characterized by sunken sternum (pectus excavactum) or even prominent breast bone (pectus carinatum). In some cases there are also those who experience scoliosis.
Most people with Noonan syndrome are also born with critical congenital heart defects. The most common heart defect in children with Noonal 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.
A variety of bleeding disorders have been reported in most children with Noonan syndrome. Starting from excessive bruising, frequent nosebleeds, or prolonged bleeding after injury or surgery.
Men who are born with Noonan syndrome usually fail puberty. Therefore, most men with Noonan syndrome have testicles that do not go down or are called cryptorchidism. This can affect fertility. While for women, puberty will arrive late.
Most children diagnosed with Noonan syndrome have normal intelligence, but some experience intellectual disabilities that make them need special education. Some people with Noonan also have vision or hearing problems. Affected babies may experience eating problems, which usually improve from the age of 1-2 years.
What is the right treatment for Noonan syndrome?
Noonan syndrome there is no medicine and how to treat it specifically, but can be managed in certain ways according to the symptoms that appear. For example, if a baby is also born with a heart defect, the heart problem can be overcome by surgery. Height problems can be corrected by growth hormone therapy so that the height can match other children who are appropriate.
In some children with Nooman syndrome, facial muscles, especially the mouth, are weakened, affecting their ability to speak and eat. So that is needed speech therapy to overcome this problem by training the mouth muscles to move as they should.
In boys, if the testicular condition is still not down it is usually treated with surgery or what is called orchidexex action.
As age progresses, children with Noonan syndrome should still be checked regularly to monitor symptoms. Increasing age usually does not have significant health problems due to this condition. People with Noonan syndrome can live a normal life.
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