Williams Syndrome - Symptoms, causes and treatment

Williams ssyndrome or sindrom Wiliams is a rare genetic disease that causes impaired growth and development on child. Williams syndromeusually characterized by abnormalities in the face, blood vessels, and growth disorders in children.

A child is at risk of developing Williams syndrome if one or both parents have Williams syndrome. However, a child can also have Williams Syndrome even if neither parent has the disease.

In many cases, children with Williams syndrome require lifelong medical care. However, with proper treatment, people with Williams syndrome can still live normal lives like other children.

Reason Williams Syndrome

William syndrome or Williams-Beuren syndrome can occur due to genetic changes or mutations, but the cause of these genetic mutations is not known. The genetic abnormalities in William's syndrome can be inherited from parents or occur spontaneously. This disease can be inherited autosomal dominant, meaning that it can be inherited only from one parent who carries the gene abnormality.

Symptom Williams Syndrome

Williams syndrome can cause abnormalities in the shape of the face, as well as the heart and blood vessels. Symptoms of Williams syndrome do not appear all at once, but appear gradually as the child develops.

Symptoms of Williams syndrome that appear on the child's face are:

  • Wide forehead
  • Both eyes are not symmetrical
  • There is a fold of skin at the corner of the eye
  • A snub nose with a big nose tip
  • Wide mouth with thick lips
  • Teeth are small and arranged loosely
  • Small chin

In addition to causing facial symptoms, Williams syndrome can also cause abnormalities in the circulatory system, such as:

  • Hypertension
  • Narrowing of the largest arteries (aorta) and pulmonary arteries
  • Heart disease

Children who suffer from Williams syndrome will experience growth disorders. This condition makes the child's weight and height less than normal. In addition, people with Williams syndrome usually have difficulty eating which will exacerbate growth disorders.

People with Williams syndrome can have learning disabilities, have speech delays, and have difficulty learning new things. In addition, people with Williams syndrome may experience other psychological symptoms, such as ADHD, phobias, and anxiety disorders.

Other conditions that can appear in people with Williams syndrome are:

  • Ear infection
  • Urinary tract infection
  • Farsighted
  • Bone and joint disease
  • Curvature of the spine (scoliosis)
  • Hypercalcemia or excess calcium in the blood
  • Diabetes
  • Kidney illness

Despite having a number of problems above, it does not mean people with Williams syndrome can not move normally. Some people with Williams syndrome have good memory and musical abilities. Children with Williams syndrome tend to be even more outgoing and sociable.

When to go to the doctor

Children with Williams syndrome will look different at an early age, usually before age 4. Consult a pediatrician if you feel there is something different in your child.

Also obey the child's immunization schedule, because in addition to immunization, the pediatrician will also examine the child as a whole. So if there are abnormalities in children, it can be detected early.

Williams syndrome is a genetic disease that can be inherited. If there is a family member who suffers from this disease and you plan to have children, first consult with your obstetrician about the possibility of this disease in your child and how to overcome it.

Diagnosis Williams Syndrome

In diagnosing Williams syndrome, the doctor will first ask about the symptoms experienced by the child and whether there is a history of Williams syndrome in the family. After that, the doctor will perform a physical examination, especially on the face, to confirm signs of Williams syndrome.

The doctor will also perform a blood pressure check and a psychological examination to assess the child's psychological condition and level of intelligence.

After that, the doctor will perform 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 your child is suspected of having Williams 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 sample of the child's blood for later analysis in the laboratory.

Treatment Williams Syndrome

Treatment of Williams syndrome aims to relieve symptoms. Therefore, the type of treatment that will be given depends on the symptoms that appear and their severity. Treatment for Williams syndrome includes:

  • Feeding therapy, so that children can eat more easily.
  • Behavioral therapy, if your child has a behavior disorder, such as an anxiety disorder or ADHD.
  • Psychotherapy, to overcome delays in mental development and intelligence levels, as well as low social skills.

Children with Williams 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 them, for example through pictures, animations, or films.

To avoid hypercalcemia or buildup of calcium in the blood, children need to avoid foods that are high in calcium and vitamin D. Patients with Williams syndrome also need to exercise regularly and avoid eating sugary foods to prevent diabetes.

Antihypertensive drugs will be given if the child's blood pressure increases. While heart surgery will be done to correct abnormalities in the heart or blood vessels.

Keep in mind, Williams syndrome is incurable. However, with proper treatment, people with Williams syndrome can live a normal life. Patients with Williams syndrome need to regularly see a doctor so that their condition can be monitored.

Complications Williams Syndrome

Complications of Williams syndrome are impaired kidney function and heart disease. Treatment of complications will be adjusted to the symptoms felt by the patient.

Prevention Williams Syndrome

Until now, there are no known preventive measures for Williams syndrome. A person whose family member suffers from Williams syndrome is recommended to consult a doctor first before planning a pregnancy. This consultation aims to find out how likely it is to have Williams syndrome in the unborn child, as well as the steps that can be taken to prevent it.