- Williams-Beuren syndrome
Your QuestionI have a patient who may have Williams syndrome. His mother was previously diagnosed with familial Mediterrranean fever, but she has facial features consistent with Williams syndrome. Do Williams syndrome and familial Mediterranean fever share any signs or symptoms?
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People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.
The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.
Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt.Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected children may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.
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. Williams syndrome most often occurs 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. Regardless of family history, an individual with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children.
- Williams syndrome. Genetics Home Reference (GHR). December 2014; http://ghr.nlm.nih.gov/condition/williams-syndrome. Accessed 12/29/2015.
- NINDS Williams Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 30, 2015; http://www.ninds.nih.gov/disorders/williams/williams.htm. Accessed 12/29/2015.
- Morris CA. Williams Syndrome. GeneReviews. June 13, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1249/. Accessed 12/29/2015.
- Tran M and Spencer FA. Thromboepidemiology: Identifying patients with heritable risk for thrombin-mediated thromboembolic events. American Heart Journal. 2005;
- Learning about Familial Mediterranean Fever. NHGRI. November 2011; http://www.genome.gov/12510679. Accessed 12/8/2015.
- Williams syndrome. Genetics Home Reference. March 2008; http://ghr.nlm.nih.gov/condition/williams-syndrome. Accessed 2/23/2011.
- Learning About Familial Mediterranean Fever. NHGRI. July 7, 2010; http://www.genome.gov/12510679. Accessed 2/23/2011.