Williams syndrome is a rare genetic, developmental disorder. It affects many parts of the body and is characterized by mild to moderate mental retardation or learning difficulties, distinctive facial appearances, and a unique personality combined with over-friendliness and high levels of empathy with anxiety. The most significant medical problems associated with Williams syndrome is cardiovascular disease, problems with the heart and blood vessels. In infants, this disease is also related with elevated blood calcium levels.This syndrome is caused by missing genes; specifically the deletion of a small section of chromosome 7 that contains approximately 25 genes. The deletion is caused by a break in the DNA molecule that makes up the chromosome.
This break occurs while the sperm or egg cell is developing and when the cell is fertilized, the child will develop Williams syndrome. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles.Although they worry excessively, commonly have ADD, problems with anxiety, and phobias such as fear of loud noises are common in people effected with the disorder, they do however tend to do well on tasks that involve spoken language, music and learning by repetition. Individuals with Williams syndrome can be amazing and bright people. They have such engaging and outgoing personalities and tend to take an extreme interest in other people.Those effected with this syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, wide mouth with full lips, puffiness around the eyes, small chin, and many also have dental problems such as small, widely spaced teeth, some that are crooked or missing. In older children and adults, the face appears longer and gaunter. Other problems linked with Williams syndrome consist of high blood pressure, chest pains, shortness of breath, and heart failure.
Also, abnormalities of connective tissues such as joint problems and soft, loose skin are occurring problems.During infancy, developmental delays, problems with coordination, and short stature are also connected with Williams syndrome. Williams syndrome affects an estimated 1 in 7,500 to 20,000 people and unfortunately there is no cure for those affected, nor is there a standard course of treatment.
Because Williams syndrome is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States. Physical therapy is helpful to patients with joint stiffness, but treatments are based on an individual’s particular syndromes.