Williams and Beuren in 1961, Williams syndrome (WS) is a rare genetic condition.
What research has been/is being conducted on this condition (both past and present)?
By combining animal models with human studies, Dr. Kozel is investigating genetic factors that influence the severity of vascular disease in patients with Williams syndrome. She has identified genes that regulate blood vessel narrowing and control disease severity in mice.To translate the findings to patients, she works with collaborators to collect and analyze medical history and DNA from children and adults with Williams syndrome. By collecting this information, she hopes to identify factors (genetic or environmental) that increase the risk of blood vessel disease in those with Williams syndrome. "Our approach would help us to stratify patients into groups based on what type of monitoring they will need and determine which medications should be used to control blood vessel problems," Dr. Kozel says.
How does this condition occur (what specific gene(s)/chromosome(s) is affected)?
Babies with Williams syndrome are born without certain genes. The symptoms they have depend on the genes they're missing. For example, someone born without a gene called ELN will have heart and blood vessel problems.The genes are usually missing in the sperm or egg before they meet up to form the baby. In a small number of cases, babies inherit the genetic deletion from a parent with the condition, but it is usually a random disorder in the genes.
Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.
Can it be inherited?
What is the frequency of the
Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.
An estimate of 20,000/30,000 people in the U.S. alone have Williams Syndrome
Medical Aspects of the Disorder
What are the signs/symptoms?
Williams syndrome can cause symptoms in different parts of the body, such as the face, heart, and other organs. It can also affect a child's ability to learn.
Children with Williams syndrome have unique facial features that may include:
Bridge of the nose is flattened
Short nose with a large tip
Wide mouth with full lips
Small, widely spaced teeth
Missing or crooked teeth
Folds over the corners of the eyes
White starburst pattern around the iris, or colored part of the eye
Long face and neck (in adulthood)
What are the disadvantages/challenges associated with the disorder?
Babies born with Williams syndrome can be very small. They may have trouble eating, and might not gain weight or grow as quickly as other children.As adults, they are often shorter than most people.
How is it diagnosed or detected?
Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.
Medical Aspects of the Disorder continued
Some of the treatments your child might need:
A diet low in calcium and vitamin D to bring down high calcium levels in the blood Medicine to lower blood pressure Special education, including speech and language therapy Physical therapy Surgery to fix a blood vessel or heart problem
Are there any treatments available for those with this disorder?
Cardiologist -- a doctor who treats heart problems
Endocrinologist -- a doctor who treats hormone problems
Gastroenterologist -- a doctor who treats gastrointestinal problems
Ophthalmologist -- a doctor who treats eye problems