What is Williams Syndrome: Symptoms, Diagnosis, Treatment, Complications

What Is Williams Syndrome?

Many people are unaware of this condition and often wonder as to what is Williams Syndrome. Williams-Beuren syndrome, commonly known as Williams syndrome, is a rare genetic disorder which causes multiple developmental problems. Certain cardiac problems, blood vessels issues, musculoskeletal disorders and learning disabilities arise as a result of Williams syndrome.

According to research, 1 in 10,000 people suffer from this illness. Although believed to be a genetic disorder, this syndrome can also be present since birth in individuals who have never had any family history of this illness. While the exact causes of Williams syndrome are not clear, studies have shown that random genetic mutations, and not heredity, generally cause this condition. However, the affected individuals face a 50% risk of passing this disease on to their children. Williams syndrome is believed to be triggered by the deletion in chromosome 7. The deleted section comprises of approximately 25 genes. Elastin, the gene which provides elasticity to the blood, is one among the missing genes and its absence causes heart defects and circulatory system issues.

What Are The Symptoms of Williams Syndrome?

Williams syndrome is characterized by a group of symptoms which occur together. In certain medical syndromes, the condition is not always evident initially when the individual is born. As the symptoms begin to develop with age, the doctor can recognize them clearly and make an accurate diagnosis. The symptoms of Williams syndrome greatly impact the overall health and development of the sufferer.

Some of the common symptoms of Williams syndrome are:

  • Distinct facial features like a small upturned nose, full lips, widely spaced teeth and wide mouth.
  • Poor birth weight and muscle tone.
  • Short height.
  • Sunken chest.
  • Inward bending little finger.
  • Feeding or colic issues.
  • Kidney abnormalities.
  • Delay in speech.
  • ADHD or Attention Deficit Hyperactivity Disorder.
  • Learning disorders.
  • Farsightedness.
  • Peculiar phobias.
  • Differing degrees of intellectual disability.

People suffering from Williams syndrome display certain peculiar personality traits like an over friendly attitude, sensitivity to loud music, interest in music and dislike for any physical contact. These behavior features are often seen in addition to the symptoms of Williams syndrome.

How is Diagnosis of Williams Syndrome made?

Williams syndrome can be particularly diagnosed through physical characteristics. This diagnosis can be further confirmed by performing the Fluorescent In Situ Hybridization (FISH) Test on the patient. This is basically a lab test, which labels DNA sequences with a chemical that illuminates under ultraviolet light. This enables the scientists to ascertain the presence or absence of the particular gene. This is an important part of the diagnosis of Williams syndrome.

Blood pressure check, kidney ultrasound and echocardiogram are some other tests which help to diagnose this condition. High blood calcium levels, strange patterning in the iris of the eye and slack joints, if detected in tests, can together point towards the diagnosis of Williams syndrome.

What is the Treatment of Williams Syndrome?

There is no direct treatment of Williams syndrome. Treatment depend on the sufferer’s symptoms and no standard treatment protocol exists. These treatments basically ease the symptoms of Williams syndrome to bring considerable relief. The symptom of narrowed blood vessels can be medically treated. Speech delay and other physical issues can be managed with speech and physical therapies. Regular checkups and visit to the doctor are essential to keep a check on the cardiovascular health. This forms an important part of the treatment of Williams syndrome. Also, such patients should avoid consuming extra calcium and vitamin D since these nutrients are already present in high amounts in the blood.

What Are The Long Term Complications of Williams Syndrome?

Williams syndrome is characterized by certain medical conditions which can negatively impact the lifespan of the patient. Some of the complications of Williams Syndrome can be serious too. The narrowed blood vessels can cause heart failure while high calcium deposits can lead to kidney problems. Other complications of Williams Syndrome are that most sufferers have certain degree of intellectual disability, which can cause further problems.

As a part of treatment of Williams syndrome, regular monitoring and administration of appropriate medicines can help. Getting early intervention in school and learning self-help skills prove useful in making them independent, in addition to the treatment. Some people with Williams syndrome need permanent supervision of a caregiver.

Ways to prevent Williams syndrome are not known, however, individuals with a family history of this condition must opt to undergo genetic counselling before conceiving a baby. They should talk to their doctor and understand the risks associated with this conception and the chances of their child being born with Williams syndrome.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:November 23, 2017

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