One in 10,000 people across the globe have a genetic disorder known as Williams syndrome.
People diagnosed with Williams syndrome are known for their amazing smiles and wonderful personalities. Many also display a fondness and talent for music. They are highly expressive and loving individuals. However, those with WS also suffer from a considerable range of both physical and cognitive developmental problems.
Kids and adults with Williams syndrome have similar facial characteristics. They typically have a small upturned nose, a wider mouth, plump lips, dental abnormalities, a diminutive chin and a longer vertical space above the upper lip. A white lacy pattern surrounds the pupils of those with light-colored irises. These common WS characteristics are merely physical, but not all symptoms are harmless.
Williams Syndrome, characterized by specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips, along with learning disorders, short stature, sunken chest and more, is the result of a chromosomal mutation in Chromosome 7, which includes several genes. The 26 to 28 genes are spontaneously deleted from DNA at the time of conception.
The Williams Syndrome Association says it’s likely that the elastin gene deletion accounts for many of the distinct physical features. Elastin is a protein that makes up connective tissues throughout the body. Other pieces of genetic material are sometimes missing as well in Williams Syndrome patients, causing some of the medical and developmental problems.
The extent of deletions and the results of those deletions can as varied as the patients themselves. Micro-array analysis testing can not only identify which elastin is missing, but can provide additional information on the precise size of the deleted area on Chromosome #7.
While Williams syndrome is an autosomal dominant condition, meaning when present, the genetic trait is dominant and would overwhelm the same involved genes from the other parent (such as brown eyes over blue eyes), most cases are not inherited.
Other medical monitoring, therapies and treatments may be required. Those with Williams syndrome are individuals with varying strengths, weaknesses and needs. In any case, patients should receive regular and thorough evaluations to determine individual requirements and treatment plans.
Williams syndrome is incurable, but a multidisciplinary team can help to improve the quality of life for individuals with the condition.
Researchers have yet to find a way to accurately prevent Williams Syndrome because, in an overwhelming percentage of cases, the syndrome occurs spontaneously. Furthermore, incidence does not change with future pregnancies, so having one child with Williams Syndrome does not have an impact on whether a sibling will be born with the syndrome.
Individuals with the syndrome are often the only ones in their immediate and extended families to have it, though they do have a 50-50 chance of passing it on to their own children.
Couples with a family history of Williams Syndrome can seek prenatal testing should they wish to conceive.