Williams syndrome is a rare genetic disease. It causes stunted growth and development in children. This disorder is usually characterized by abnormalities in the face, blood vessels, and growth disorders in children.
A child is at risk of suffering from Williams syndrome if one or both parents suffer from this syndrome. However, a child can also suffer from it even though both parents do not suffer from this disease.
In many cases, children who suffer from Williams syndrome require treatment from a doctor for life. But with the right treatment, sufferers can still live normally like other children.
Williams Syndrome Causes
Williams syndrome or Williams-Beuren’s syndrome can occur due to genetic changes or mutations, but the cause of the genetic mutation is not yet known.
Genetic disorders can be inherited from parents or occur spontaneously. This disease can be inherited autosomal dominant. It means that it can be inherited only from one parent who carries the gene abnormality.
Williams Syndrome Symptoms
Williams syndrome can cause abnormalities in the shape of the face, as well as heart organs and blood vessels. The symptoms do not appear at once but appear gradually as the child’s development. The Williams syndrome symptoms that appear on a child’s face are:
- Wide forehead
- Both eyes are not symmetrical
- There are folds of skin in the corner of the eye
- Snub nose with a big nose
- Wide mouth with thick lips
- Teeth are small and tenuous
- Small chin
Besides causing facial symptoms, Williams syndrome can also cause abnormalities in the circulatory system, such as:
- Narrowing of the largest arteries (aorta) and pulmonary arteries
- Heart disease
Children who suffer from this syndrome will experience growth disorders. This condition makes the child’s weight and height less than normal. In addition, sufferers usually have difficulty eating which will worsen growth disorders.
Patients with Williams syndrome can experience learning disabilities, late talking, and have difficulty learning new things. In addition, sufferers also can experience other psychological symptoms such as ADHD, phobias of something, and anxiety disorders.
Other conditions that can occur in people with Williams syndrome are:
- Ear infection
- Urinary tract infection
- Bone and joint disease
- Crooked spine (scoliosis)
- Hypercalcemia or excess calcium in the blood
- Kidney illness
Although have a number of problems above, it does not mean that people with Williams syndrome cannot move normally. Some sufferers have advantages in memory and good musical ability. Children with this syndrome tend to be even friendlier and sociable.
Time to See a Doctor
Children who suffer from Williams syndrome will look different at an early age, generally before the age of 4 years. Consult your pediatrician if you feel something is different about your child.
Also adhere to the child’s immunization schedule because, besides immunization, the pediatrician will also examine the child as a whole. So, if there are abnormalities in children, it can be detected earlier.
Williams syndrome is a genetic disease that can be inherited. If there are family members who suffer from this disease and you plan to have offspring, consult with an obstetrician about the possibility of this disease in your child and how to overcome it.
Williams Syndrome Diagnosis
In diagnosing Williams syndrome, the doctor will first ask the symptoms experienced by children and whether there is a history of this syndrome in the family. After that, the doctor will do a physical examination, especially on the face to confirm the signs.
The doctor will also do a blood pressure check and psychological examination to assess the psychological condition and intelligence level of the child. After that, the doctor will conduct additional examinations, such as:
- ECG examination to check for abnormalities in the heart.
- Ultrasound examination to find abnormalities in the kidneys and urinary tract.
If a child is suspected of having this syndrome, the doctor will recommend genetic testing. This test aims to determine the condition of the child’s chromosomes, whether there are abnormalities or not. This examination is done by taking a child’s blood sample for later analysis in the laboratory.
Williams Syndrome Treatment
Williams syndrome treatment aims to relieve symptoms. Therefore, the type of treatment that will be given depends on the symptoms that appear and the severity. Williams syndrome treatments include:
- Eating therapy, so the children can eat more easily.
- Behavioral therapy, if the child experiences behavioral disorders such as anxiety disorders or ADHD.
- Psychotherapy, to overcome the delay in mental development and the level of intelligence, and low social ability.
Children who suffer from this syndrome will have difficulty learning through textbooks. To help the learning process, children can be given learning through other methods that are more easily captured by him, for example through pictures, animations, or films.
To avoid hypercalcemia or a buildup of calcium in the blood, children need to avoid foods that are high in calcium and vitamin D. Patients with this syndrome also need to exercise regularly and avoid consuming sweet foods to prevent the onset of diabetes.
Antihypertensive drugs will be given if the child’s blood pressure rises. On the other hand, heart surgery will be done to correct abnormalities in the heart or blood vessels.
Keep in mind, Williams syndrome cannot be cured. But with the right treatment, sufferers can live normally. Patients need to regularly see a doctor so that their condition can continue to be monitored.
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Williams Syndrome Complications
Complications of Williams syndrome are impaired kidney function and heart disease. Treatment of complications will be adjusted to the symptoms felt by the patient.
Williams Syndrome Prevention
Until now, the steps to prevent Williams syndrome are unknown. Someone with family members suffering from this syndrome is advised to consult a doctor first before planning a pregnancy. This consultation aims to find out how likely the occurrence of Williams syndrome in a child later, as well as steps that can be taken to prevent it.