Williams syndrome

William's syndrome is a genetic disorder that causes problems with neurodevelopment. Anyone can be born with this disorder and while it doesn't hinder friendliness and social interaction, it does include some physical side effects that can be life-threatening. William's syndrome causes characteristic facial features and may lead to developmental delay and learning disorders.

Symptoms of William's Syndrome

There are many common features which are characteristic of William's syndrome. The most evident may be similar facial features which are produced by the disorder. Often, children with William's syndrome have features that resemble that of an elf, such as a small, upturned nose, a wide mouth with elongated upper lip, a small chin, full lips and puffy eyes. The eyes may include a lacy or starburst pattern on the iris and these features normally become even more pronounced with age. Aside from common traits which are visible, there are several other symptoms which may point to this disorder. These may include:

  • Cardiovascular problems - usually caused by narrowing of the arteries. Narrowing can be mild or severe to the point that surgery is required.
  • High blood calcium - also called hypercalcemia, this can cause irritability or symptoms which resemble colic. Calcium and vitamin D levels should be monitored over a lifetime.
  • Low birth weight - children are slighty smaller than their siblings, and adults with this disorder are usually smaller than average.
  • Feeding difficulties - children with this disorder tend to experience low muscle tone, gag reflex and problems with sucking or swallowing. This may contribute to some problems with weight gain, but feeding abilities should resolve as the patient ages.
  • Abnormal teeth - abnormalities in the bite, tooth shape and appearance may be corrected with orthodontic work. Teeth may be small and spaced widely apart.
  • Excessive social personality - children with William's syndrome tend to be overly social, friendly and joyful. Most patients welcome the company of strangers and children with the syndrome tend to prefer adult contact over that with peers. The inability to recognize social cues may make lasting relationships difficult to maintain.
  • Learning delays - children may experience significant delays in walking, talking and other milestones. Spatial relations and motor skills may cause problems, while speech and long term memory are generally strengths for patients with this condition.
  • Other problems - many symptoms may be present, such as kidney problems, susceptibility to hernias, sensitive hearing, low muscle tone and joint stiffness.

Causes of William's Syndrome

The exact cause of William's syndrome is unknown. The disorder surfaces due to the deletion of over 25 genes which are normally present within chromosome 7. There is no evidence that susceptibility is passed down the family tree, but people who are diagnosed with the disorder have a 50% chance of passing it to each of their children.

Diagnosis of William's Syndrome

Evaluation of symptoms of William's syndrome can help substantially when attempting to make a concrete diagnosis. This particular disorder can be verified with a simple blood test. There are two types of tests currently available, FISH and micro-array analysis. Each of these can determine elastin deletion on chromosome 7.

Treatment Options for William's Syndrome

There is no cure for William's syndrome. Treatment options vary case by case and can include psychological counseling and physical therapy. Depending upon the patient's unique needs, a wide variety of treatment options and supportive care may be recommended throughout his or her life. Constant monitoring of progress and surveillance of changes in the body can help to prevent major problems. Medical treatment or surgery may be required for more severe physical problems or limitations. Adults with this disorder may benefit from assisted living and many schools and universities offer programs specifically geared to meet the needs of disabled persons.