About williams syndrome

What is williams syndrome?

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.

Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities. Cardiac defects may include obstruction of proper blood flow from the lower right chamber (ventricle) of the heart to the lungs (pulmonary stenosis) or abnormal narrowing above the valve in the heart between the left ventricle and the main artery of the body (supravalvular aortic stenosis). Musculoskeletal abnormalities associated with Williams syndrome may include depression of the breastbone (pectus excavatum), abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), or an awkward gait. In addition, most affected individuals have mild to moderate mental retardation; poor visual-motor integration skills; a friendly, outgoing, talkative manner of speech; a short attention span; and are easily distracted.

In most individuals with Williams syndrome, the disorder appears to occur spontaneously for unknown reasons (sporadically). However, familial cases have also been reported. Sporadic and familial cases are thought to result from deletion of genetic material from adjacent genes (contiguous genes) within a specific region of chromosome 7 (7q11.23).

What are the symptoms for williams syndrome?

Round face symptom was found in the williams syndrome condition

A syndrome is a set of symptoms that occur together. In some medical syndromes, the condition is not always apparent when an individual is born. As symptoms start to develop, your doctor can take note of them and make an appropriate diagnosis. Williams syndrome is a condition made up of specific symptoms that significantly impact health and development.

Common symptoms of the condition include:

  • specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips
  • colic or feeding problems
  • attention deficit hyperactivity disorder (ADHD)
  • learning disorders
  • inward bend of pinky finger
  • specific phobias
  • short stature
  • speech delays
  • sunken chest
  • varying degrees of intellectual disability
  • low birth weight and muscle tone
  • kidney abnormalities
  • farsightedness

Personality traits common in people who have the condition include:

  • an interest in music
  • aversion to physical contact
  • being overly friendly
  • sensitivity to loud noises

What are the causes for williams syndrome?

Although a genetic link is present, a person can be born with the syndrome without having a family history of it. According to the National Institute of Neurological Disorders and Stroke, random genetic mutations, not heredity, usually cause the condition. Affected individuals do, however, have a 50 percent chance of passing it on to their children.

Scientists found that a deletion in chromosome 7 causes this condition. The deleted section contains approximately 25 genes. The gene elastin, which gives elasticity to the blood, is one of the missing genes. Without it, heart defects and disorders of the circulatory system are common.

What are the treatments for williams syndrome?

Treatment is usually based on the individual’s symptoms. There is no standard treatment protocol. Regular checkups are necessary to look at the cardiovascular system and track any possible problems.

People with Williams syndrome should avoid taking extra calcium and vitamin D. This is because blood levels of these substances are already high.

Is there a cure/medications for williams syndrome?

There is no cure for Williams syndrome. Treatment involves easing the symptoms connected to the syndrome. Narrowed blood vessels can be treated if they cause symptoms. Physical therapy and speech therapy can also be beneficial.

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