Costello Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Costello syndrome is a genetic disorder characterized by stunted mental growth and development, as well as abnormalities in various parts of the body. The most common abnormalities are very loose and lax skin conditions, muscle weakness, and abnormalities in the heart.
This disease is also known as Cardio-Facio-Cutaneous Syndrome. Fasio means face, cutaneous means skin, and skeletal includes muscles and bones. So the abnormalities that occur in Costello syndrome include abnormalities in the face, skin, muscles, and bones.
Costello syndrome is very rare. It is estimated that there are around 200–300 people with Costello’s syndrome in the world.
Symptoms
Actually, Costello syndrome has occurred since the sufferer was born, even when he was in the womb. However, in general, abnormalities are not visible at birth but only begin to appear after the child is several months old.
Symptoms in Costello syndrome can include:
- The stature of the child is short compared to his age
- Its development is delayed, for example, until the age of 6 months you cannot lie on your stomach, or at 9 months you cannot sit
- It is difficult to swallow food (can occur until the age of 2-4 years, sufferers are unable to chew and swallow food)
- The size of the head circumference is larger than it should be
- Saggy and loose skin, especially the skin on the hands and feet
- Wide mouth
- It is easy to form calluses (calluses) on the soles of the feet
- The earlobes are very thick
- The muscles are big but weak and hard to contract
- The joints of the body can move in many directions
In addition, the internal organs that are generally also disturbed in sufferers of Costello syndrome are the heart organs. The condition of hypertrophic cardiomyopathy, which is a heart deformity characterized by enlarged heart muscle but weak in pumping blood, commonly occurs in this disease.
Hypertrophic cardiomyopathy can show symptoms in the form of irregular heart rhythms, repeated fainting, shortness of breath, and even sudden cardiac arrest.
Furthermore, people with Costello syndrome are also more prone to developing tumors than normal people. Tumors that often occur in patients with Costello syndrome are rhabdomyosarcoma, neuroblastoma, and bladder cancer.
Reason
Costello syndrome occurs as a result of a genetic abnormality in the HRAS gene. This happens because the gene has a mutation.
Mutations in the HRAS gene cause cells to grow and divide continuously, not just at certain times. This makes people with Costello syndrome more susceptible to tumors, both benign and malignant tumors.
This disease can be passed on genetically from parent to child, but it can also occur spontaneously without any history of genetic disorders in other family members.
Diagnosis
If a child is suspected of having Costello’s syndrome, the doctor will do a growth and development examination first. The doctor will measure your weight, height and head circumference. Then the doctor will also assess the child’s level of development, including gross motor, fine motor, speech, and social development.
Furthermore, to confirm the diagnosis, a biomolecular examination will be carried out to see the presence of mutations in the HRAS gene.
Treatment
Costello’s syndrome cannot be eliminated or cured. Treatment is carried out aims to improve the quality of life of sufferers. Among them is by:
- Help overcome difficulty swallowing food as a child, for example by placing a tube from the nose to the stomach ( nasogastric tube )
- Physiotherapy and other medical rehabilitation measures to treat bone and muscle problems
- Providing special schools to help sufferers of Costello’s syndrome attend lessons
- Surgery if there is a tumor
Treatment measures for sufferers of Costello syndrome require multi-disciplinary collaboration from pediatricians, medical rehabilitation specialists, physiotherapists, nutrition specialists, nutritionists, psychologists, and so on.
Prevention
Until now there is no action that can be done to prevent Costello syndrome.