Williams syndrome is a genetic disease that can cause developmental, learning, and health problems. This syndrome cannot be cured completely, but there are treatments available to control symptoms when diagnosed early. You can find more information below.

What is Williams syndrome?

Williams syndrome is a rare genetic disease. It is characterized by distinctive physical features and behaviors, including a distinctive facial appearance, mild intellectual disability, and an overly social personality.

Williams syndrome is caused by a missing piece of genetic material on chromosome 7. The formation of this missing piece occurs randomly. One in every 20,000 babies is born with this genetic syndrome. Men and women are affected equally, and this disease can occur in all races. There is currently no treatment to cure the disease completely.

Williams syndrome treatment aims to support the person and manage their symptoms. The outlook for the disease depends on the degree of severity. In some cases, a person with this genetic syndrome can complete school, work, and take care of themselves. However, other patients may need lifelong care.

What causes Williams syndrome?

Williams syndrome; It is caused by partial deletion of 28 genes on chromosome 7. This means that some of the genetic material on chromosome 7 is missing. Some of these genes are believed to be involved in the production of elastin (a structural protein that occurs in the body).

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Elastin is a protein that provides flexibility to various structures, including the skin and blood vessel walls. This elastin deficiency is most likely the cause of the distinctive physical features of Williams syndrome.

Most cases of this genetic disease are caused by random mutations that occur during egg or sperm formation in an unaffected person.

Although rare, Williams syndrome can be inherited from a parent who has the disease. In rare cases, it is inherited in an autosomal dominant manner. This means that only one copy of the mutated chromosome 7 causes the disease. Because of this way of inheritance, a person with Williams syndrome has a 50 percent chance of passing the condition on to their future children.

This genetic syndrome is not linked to anything the parents did or did not do during pregnancy.

What are the symptoms of Williams syndrome?

Most people with Williams syndrome have a wide variety of physical, social, and cognitive (thinking and acquiring information) characteristics. These characteristic features may occur to a greater or lesser degree.

Some common physical features of Williams syndrome include:

  • Distinguishing facial features: Thick upper lip, small chin, large lips, chubby face, upturned nose, flattened nasal bridge, and also some people with Williams syndrome may squint.
  • Weight and growth issues: A newborn with Williams syndrome may not have the ideal birth weight and may gain weight gradually. Adults with Williams syndrome are usually shorter than average.
  • Feeding difficulties: Babies can have problems with feeding, including difficulty swallowing and feeding extremely slowly.
  • Hyperacusis: This includes extreme sensitivity to sound and being startled or annoyed by even ordinary noise levels.
  • Dental problems: You may have teeth that are smaller than normal, oddly shaped, widely spaced, and misaligned.
  • Cardiovascular problems: Common heart problems include; aortic stenosis and narrowed pulmonary artery (blood vessels that carry blood from the heart to the lungs).
  • Hypercalcemia: The presence of higher than normal calcium levels in the blood.
  • Colic: Colic (crying spells) that babies with Williams syndrome often encounter may be caused by hypercalcemia.
  • Hernia: There may be inguinal and umbilical (belly button) hernias.
  • Kidney problems: There may be adverse changes in the shape and function of the kidneys.
  • Muscle and joint problems: There may be problems such as weak muscle tone (the tension that provides the necessary ground for the muscle to contract), weak muscles, extremely loose joints, muscle contractures (abnormal shape of the joints due to shortening of the muscles), and poor physical coordination.
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Mental and personality traits may include:

  • Intellectual disabilities: May have developmental delays, below-average IQ, learning difficulties, poor spatial skills, and attention deficit hyperactivity disorder (ADHD) .
  • Extremely social personality: Typically, the person with Williams syndrome is uncomfortably social without fear of strangers or social interaction.

How is Williams syndrome diagnosed?

This genetic syndrome is often not immediately diagnosed. This means that many people do not get the support and treatment they need in life until they are diagnosed.

Diagnostic tests include:

  • medical history
  • Physical examination to check for typical features
  • blood test to check for high calcium levels (although calcium levels are not always high)
  • a chromosome test that detects Williams syndrome and many other minor chromosome changes
  • Chromosome test to check the status of the elastin gene on chromosome 7

How is Williams syndrome treated?

There is currently no definitive cure for Williams syndrome. Current treatment; It aims to support the person and manage associated symptoms. In this genetic syndrome; With a team of professional experts, many physical, developmental, mental and social problems are treated.

The treatment process may include the following stages:

  • speech therapy
  • Social behavior training
  • Regular medical monitoring of heart and blood vessel problems and other physical problems that can cause complications
  • Surgery to correct heart and blood vessel problems if deemed necessary
  • Dental and orthodontic treatment (tooth structure, type of treatment including jaw disorders)
  • Physical therapy from a physiotherapist
  • occupational therapy

Genetic counseling and Williams syndrome

If you or a family member has been diagnosed with Williams syndrome or has a family history of the condition, talking to a genetic counselor may be helpful.

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genetic counselors; are qualified health professionals in both counseling and genetics. In addition to providing emotional support; They can help you understand Williams syndrome, why and how it happens, and what a diagnosis means for your or your child’s health and development.

genetic counselors; are trained to provide information and support sensitive to your family’s circumstances, culture and living conditions.

If you have Williams syndrome in your family, a genetic counselor can explain what genetic testing options are available for you and other family members. If you are planning a family, you may choose to visit a genetic counselor to learn about your risk of passing the condition to your child or to arrange prenatal testing.

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