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What are the symptoms of Williams syndrome?
What is Williams syndrome?
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Williams Syndrome is a rare congenital disorder that occurs randomly and affects around one in 18,000 people in the UK. It is non-hereditary and causes distinctive facial characteristics and a wide range of learning difficulties. Infants often have delayed development and can develop physical and mental health problems, including anxiety and ...
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Williams syndrome is a rare genetic condition characterized by unique physical features, delays in cognitive development and potential cardiovascular problems. Children born with Williams syndrome can have a normal life expectancy but may develop side effects from the condition that can affect their prognosis.
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What causes Williams syndrome?
A deletion, or missing piece, of a region on chromosome 7 causes Williams syndrome. In our bodies, we have 46 chromosomes total, arranged into 23 pairs. We inherit one copy of a chromosome in each pair from our parents. Within our chromosomes are segments of DNA (genetic information) known as genes. Our genes are our body’s instruction manual that tells it how to form and function. People with Williams syndrome are missing a portion of chromosome 7, which is made up of several genes. Since your genes are an instruction manual to your body, if you're missing chromosomes, your instruction manual is missing a few pages that describe how chromosome 7 should function. The missing pages in your instruction manual cause symptoms of Williams syndrome. Advertisement
What are the symptoms of Williams syndrome?
Williams syndrome may cause symptoms that range in severity. Not all people with Williams syndrome will have the same set of symptoms. Symptoms of Williams syndrome include: Chronic ear infections and/or hearing loss. Dental abnormalities, such as poor enamel and small or missing teeth. Elevated calcium level in the blood. Endocrine abnormalities: hypothyroidism, early puberty and diabetes in adulthood. Farsightedness. Feeding difficulties in infancy. Scoliosis (curve of the spine). Sleep problems. Unsteady walk (gait). Many of the symptoms of Williams syndrome occur in other conditions that are not Williams syndrome and could lead to multiple diagnoses.
How is Williams syndrome diagnosed?
The condition is typically diagnosed when your child is a baby or early during childhood. If your healthcare provider suspects your child has Williams syndrome, they will provide a physical examination of your child, followed by a genetic test, which is a blood test that identifies gene differences. Often, your healthcare provider may ask for additional tests to confirm the diagnosis and check the symptoms of the condition. Other tests include: An EKG or echocardiogram (ultrasound of the heart) to check the heart for irregularities. Check your child's blood pressure for abnormalities. Test a sample of your child’s blood or urine to identify symptoms in your child’s kidneys.
How is Williams syndrome treated?
If someone has Williams syndrome based on physical findings and/or a positive genetic test result, your healthcare provider will work with appropriate specialists to help explain the diagnosis to the individual and their family, especially a genetic counselor. Your provider will discuss condition management recommendations based on the diagnosis. Although there is no cure for Williams syndrome, it is important to identify and treat the side effects that can occur with this condition. Treatments and interventions must be based on the unique needs of each individual including: Obtaining a formal evaluation by a cardiologist. If a problem is found in your child’s heart, the cardiologist will determine the best treatment. Enrolling in early intervention programs, therapies or special education to alleviate developmental delays and/or learning problems. Visiting a nutritionist or a nephrologist to treat elevated blood calcium levels. Visiting specialists as needed to address any additional symptoms. Care at Cleveland Clinic Schedule Genetic Counseling Find a Doctor and Specialists Make an Appointment
How can I reduce my risk of having a child with Williams syndrome?
Since Williams syndrome is a genetic condition caused by a chromosome change, not inherited from a parent, there is typically no way to prevent it. If you are planning on becoming pregnant and want to understand the risks of having a child with a genetic condition, talk with your healthcare provider about genetic testing.
What can I expect if I have a child with Williams syndrome?
Williams syndrome cannot be cured, but treatment is available to manage symptoms. It's important to seek a medical evaluation by your healthcare provider to receive a diagnosis, followed by visits to a specialist as needed to address any symptoms or side effects. Most people with Williams syndrome have a normal life expectancy, but some may have a reduced life expectancy due to complications of the disease (such as cardiovascular problems). Oftentimes, people with Williams syndrome will need additional support as they grow into adults.
How do I take care of my child with Williams syndrome?
If your child receives a Williams syndrome diagnosis, it's best to offer them as much love and support as you can. They will likely need to schedule regular visits with their healthcare provider and specialists to treat any symptoms of the condition that may arise, especially cardiovascular side effects. Your child might need to enroll in a special education program to address any challenges they might face in the classroom. Be patient with your child as they grow and adapt to the world around them at their own pace.
When should I see my healthcare provider?
You should visit your child’s healthcare provider if they: Miss developmental milestones. Get ear infections often or show signs of hearing loss. Have trouble eating.
When should I visit the ER?
If you notice your child shows signs of heart (cardiovascular) disease, visit the emergency room immediately. Symptoms of cardiovascular disease include: Blue or purple tone to the skin or lips. Breathing quickly. Difficulty eating. Fast heartbeat. Swelling throughout their body.
Jul 9, 2017 · Williams syndrome is a condition made up of specific symptoms that significantly impact health and development. Common symptoms of the condition include: specific facial features like a wide mouth ...
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [ 2 ] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [ 2 ] Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such ...
Jul 19, 2024 · Williams syndrome (WS) is a rare genetic disorder. People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties. They also may have a distinctive facial appearance and a unique personality that combines over-friendliness and high levels of empathy with anxiety.
Sep 22, 2024 · Williams syndrome is a rare genetic disorder caused by a missing section of a chromosome. It causes unique facial features, physical symptoms, cognitive delays, and learning differences. Although ...
28.Following a routine and keeping the sensory environment predictable may be beneficial to reducing anxiety inindividualswithWilliamsSyndrome,giventhatuncertaintyin
