Williams Syndrome
February 21, 2008
Williams Syndrome is a rare genetic condition (estimated to occur in 1/7,500 births) which causes medical and developmental problems. It is present at birth, and affects males and females equally, occurs in all ethnic groups and has been identified in countries throughout the world. The following are common characteristics of Williams Syndrome:
Developmental delay, learning disabilities and attention deficit Most people with Williams syndrome have some degree of intellectual handicap. Young children with Williams syndrome often experience developmental delays; milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which appears to get better as the children get older.
Older children and adults with Williams syndrome often demonstrate intellectual "strengths and weaknesses." There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) are significantly deficient.
Overly friendly (excessively social) personality Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.
Characteristic facial appearance These features which tend to be recognized by only a trained geneticist or birth defects specialist, include a small upturned nose, long upper lip, wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent "starburst" on their iris. Facial features become more apparent with age.
Heart and blood vessel problems Typically, there is narrowing in the aorta which causes narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect).
Hypercalcemia (elevated blood calcium levels) The true frequency and cause of this problem is unknown. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.
Low birth-weight / low weight gain Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem. Adult stature is slightly smaller than average.
Hyperacusis (sensitive hearing) Children with Williams syndrome often have more sensitive hearing than other children; certain frequencies or noise levels can be painful and/or startling to the individual. This condition often improves with age.
Musculoskeletal problems Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop.Expert in Williams Syndrome? DSES is always looking for volunteers to help teach or give presentations!!
Resources and Additional Information
Williams Syndrome Foundation; www.wsf.org
Williams Syndrome Association; www.williams-syndrome.org