Contents:
- Medical Video: What is COSTELLO SYNDROME? What does COSTELLO SYNDROME mean? COSTELLO SYNDROME meaning & explanation
- What is Costello syndrome?
- What causes Costello's syndrome?
- What are the symptoms of Costello's syndrome?
- Can Costello syndrome be treated?
Medical Video: What is COSTELLO SYNDROME? What does COSTELLO SYNDROME mean? COSTELLO SYNDROME meaning & explanation
Experiencing health problems in just one organ, such as abdominal pain or diarrhea, certainly makes you become distressed and uncomfortable. What if you have to experience complications from two or more problems in the organs or organs of the body, as in people who have Costello syndrome?
What is Costello syndrome?
Costello syndrome, also known as faciocutaneoskeletal syndrome (FCS), is a rare disease that attacks a number of systems or organs simultaneously. Because it affects many systems of the body, sufferers of this syndrome experience disorders that are quite complex in their physical and mental.
What causes Costello's syndrome?
The cause of the rare Costello syndrome is not yet known. However, experts suspect this has something to do with genetic mutations.
In 2005, researchers from DuPont Hospital for Children in Delaware, United States, found that around 82.5 percent of people affected by Costello syndrome experienced mutations in the HRAS gene.
The HRAS gene is a gene that is responsible for producing a protein called H-Ras. This gene mutation causes the body's cells to continue to grow and divide, even if your body doesn't tell it to. As a result, this can trigger the growth of cancerous tumors and non-cancers in the body.
To date, there have only been around 150 cases of Costello syndrome that have been published in medical literature around the world. That is why, it is not yet clear how often this syndrome occurs or risk factors that can trigger this rare syndrome.
What are the symptoms of Costello's syndrome?
Most signs of Costello's syndrome are not immediately apparent when the child is born. New symptoms appear when children begin to grow and develop in their first years.
The typical symptoms of Costello syndrome include:
- Baby's weight is difficult to rise at birth
- Short body posture
- The skin relaxes on the neck, palms, fingers and soles of the feet
- Mental retardation
- Experiencing hyperkeratosis, which is thickening of dry skin in the hands, feet and arms
- The finger joint is flexible, not hard
- Growth of benign papillomata tumors around the mouth and nostrils
In addition, people with Costello syndrome also have distinctive facial characteristics, including:
- Enlarged head (macrochepaly)
- The position of the ear is lower than the normal position
- Big and thick ear leaves
- Squint (strabismus)
- Thick lips
- Wide nose
Patients with this syndrome also have hypertrophic cardiomyopathy, which is an enlarged heart that weakens the heart muscle. An abnormal heart condition causes an abnormal heartbeat (arrhythmia), congenital heart defects, to trigger a benign or malignant tumor.
Can Costello syndrome be treated?
Costello's syndrome can be detected early by looking at the signs and symptoms since the child was born. The doctor will measure the baby's weight, height, and head circumference to detect this syndrome from the beginning.
To further ensure the diagnosis, the doctor will do a genetic test to see the possibility of gene mutations in the child's body. If a HRAS gene mutation is found, the child is at risk of developing Costello's syndrome.
Basically, there is no treatment or special treatment to overcome this rare syndrome. Medical treatment is not intended to treat the disease, but only alleviates the symptoms and health problems that exist.
For example, a cardiology examination is needed to detect heart defects or heart abnormalities in patients. Meanwhile, physical and occupational therapy is carried out to support the growth and development of late patients from their age.
Until now, none of the studies have proven that people with this syndrome will be short-lived. This possibility only occurs if the patient has a life-threatening heart, tumor, or cancer problem. As long as the patient's health condition remains healthy without cancer, then he can live and have a long life like other normal people.
