Musculoskeletal problems may affect the bones and muscles. Joints may be lax, and there may be low muscle tone early in life. Contractures, or joint stiffness, may develop. Physical therapy can help to improve muscle tone, joint range of motion, and strength.
Feeding problems may include a severe gag reflex, poor muscle tone, difficulty with sucking and swallowing, and tactile defensiveness. These problems tend to lessen with time. In most adults with WS, stature is smaller than average. Cognitive and developmental features may involve mild to severe learning disabilities and cognitive challenges.
There may be difficulties with spatial relations and fine motor skills. Developmental delays are common, and it often takes longer than normal to learn to walk upright, talk, or become toilet trained.
Teeth may have an unusual appearance, being wide, slightly small, with wider spacing than normal. There may be abnormalities of occlusion, or the aligning the upper and lower teeth, for example, when chewing or biting.
Personality traits include a high level of expressive language skill and a keenness to communicate, especially with adults. Most children with WS are not fearful of strangers. Colleen A. Sensitive hearing may make specific noise levels or frequencies painful or upsetting, but it may also be linked to a special love of music.
A study led by Dr. The researchers note that many children with WS love listening to and making music, and they often have a good memory for songs and a sense of rhythm. If Williams syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members.
You may choose to visit a genetic counsellor if you are planning a family, to find out your risk of passing the condition on to your child, or to arrange for prenatal tests. The Genetic Support Network of Victoria GSNV is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by Williams syndrome.
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Genetic conditions. Home Genetic conditions. Williams syndrome. Actions for this page Listen Print. Attention deficit disorder ADD , problems with anxiety, and phobias are common among people with this disorder. 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 teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt.
A form of cardiovascular disease called supravalvular aortic stenosis SVAS occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis 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. 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 people 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. Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.
Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease specifically supravalvular aortic stenosis found in many people with this disease.
Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. The following resources will provide details about the many facets of Williams syndrome. Williams syndrome is caused by the spontaneous deletion of genes on chromosome 7 at the time of conception. The deletion can occur in either the egg or the sperm. It is likely that the elastin gene In most families, the child with Williams syndrome is the only one to have the condition in his or her entire extended family.
Williams syndrome is a contiguous gene syndrome, which means that all of the deleted genes "line up" within the Williams syndrome "critical region" of genes. There are two DNA tests that can determine if a person has Williams syndrome. Learning that your child has a syndrome can be overwhelming. Accepting the news emotionally, dealing with immediate medical concerns, and preparing for ongoing development issues can make every day go by in a blur for days, weeks or even months.
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