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. Cleveland Clinic offers expert diagnosis, treatment and rehabilitation for bone, joint or connective tissue disorders and rheumatic and immunologic diseases. Williams syndrome (WS) is a chromosomal microdeletion syndrome characterized by a specific phenotype consisting of cognitive impairment in association with a characteristic cognitive profile, unique personality characteristics, distinctive facial features, and cardiovascular disease. We have over 20,000 genes in each cell of our bodies. The good nature of Williams syndrome sufferers and their personality traits are credited with the rise of the concept of elves in popular English folklore. 2012 Mar 12. Williams syndrome is caused by a missing piece (deletion) of genetic … These characteristics include: an outgoing social nature, an exuberant enthusiasm, a sense of the dramatic, overfriendliness, a short attention span, extra sensitivity to sounds (hyperacusis), and anxiety – especially about upcoming events. Description. People with Williams syndrome have a 50% chance of passing the condition on to each of their offspring. Williams syndrome, also called Williams-Beuron syndrome, is a rare genetic disorder caused by the deletion of a segment of chromosome 7, called 7q11.23, that includes about 28 genes 1.. Children with Williams syndrome have a range of cognitive symptoms, including a happy and highly social demeanor, developmental delay and strong language skills. Often, just knowing where to start can be helpful. failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone Many individuals with Williams syndrome require early intervention programs, therapies, or special education due to developmental delays and/or learning problems. People with Williams syndrome (WS) often an unusual “elfin” appearance, with a low nasal bridge. Older children and adults often have a long narrow face and a long neck. 1-ranked heart program in the United States. The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function. The geneticist may also: If someone is found to have Williams syndrome based on physical findings and/or a positive genetic test result, the genetics team will work with the person’s primary healthcare provider and appropriate specialists to help explain the diagnosis to the individual and their family. Individuals with elevated blood calcium levels may need to be seen by a nutritionist or followed by a nephrologist. During the genetic evaluation, the geneticist will perform a comprehensive exam to look for physical characteristics of the condition. While the disorder causes intellectual disability and other chronic health issues, the syndrome is unique in that it fundamentally alters the personality of the people that live with it. The WSA upholds the following positions on inclusion. One of the more serious features of Williams syndrome is cardiovascular disease. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. We wonder how much we should say, which characteristics we should talk about, or how we can properly explain how it happened. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nost… Williams syndrome cannot be cured, but many symptoms can be managed. Your doctor … Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. People with Williams syndrome tend to have cardiovascular disease, connective tissue changes, and endocrine abnormalities. Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7 at the time of conception. It causes many developmental problems. Williams syndrome — a genetic accident that causes cognitive deficits and a surplus of unguarded affability — is revealing much about what makes us social beings. Williams syndrome is a very rare genetic disorder affecting 1 in approximately every 20,000 births each year. Williams syndrome is a form of rare genetic disorder that is characterized by mild to moderate learning difficulties or mental retardation, a unique personality combining high levels of empathy, anxiety, and over-friendliness, and distinctive facial features. These missing genes or “instructions” result in the findings known to be common among people with Williams syndrome. Williams syndrome, also called Williams-Beuren syndrome, is a rare genetic disorder. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. A new diagnosis of Williams syndrome can be overwhelming for the patient and/or family. Williams syndrome is inherited and sometimes spontaneous. Individuals with Williams syndrome are missing a portion of chromosome 7 that typically includes several genes. People with Williams syndrome tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. Williams syndrome is a rare genetic disorder that is caused by the deletion of genetic material on chromosome 7. Characteristic facial features, especially in childhood, such as: full cheeks, wide mouth, prominent lips, small jaw, large ears, short/upturned nose, epicanthal folds (vertical skin folds that cover the inner corners of the eyes, Feeding difficulties in infancy, often leading to poor growth, Low body tone (hypotonia) and hyperextensible joints, which may result in delayed developmental milestones such as sitting and walking, Unique personality traits: overly friendly (lack of “stranger danger”), attention problems, excessive empathy, specific phobias, anxiety, Speech delay in early childhood, although speech later becomes a relative strength, Intellectual disability, usually in the “mild” range, Endocrine abnormalities: elevated calcium level (particularly in infancy), hypothyroidism, early puberty, diabetes in adulthood, Farsightedness and/or eyes which do not align, Chronic ear infections and/or hearing loss, Dental abnormalities, such as poor enamel and small or missing teeth, Scoliosis (abnormal curvature of the spine), Order an EKG or echocardiogram (ultrasound of the heart) to check the heart for irregularities, Check your child's blood pressure and kidneys for abnormalities, Recommend genetic testing through a blood test if the findings are concerning for Williams syndrome. Participants were 23 8- to 10-year-old children with Williams syndrome and 20 8- to 10-year-old children with developmental disabilities of other etiologies. The following resources will provide details about the many facets of Williams syndrome. Other common features of Williams syndrome include: Many of the symptoms of Williams syndrome occur in other diseases that are not Williams syndrome. Life-span for Williams syndrome … Williams syndrome, also known as Williams-Beuren syndrome, occurs when people are missing of a chunk of DNA containing about 27 genes. Williams syndrome affects the cardiovascular system, musculoskeletal function and aspects of personality and development, therefore, scientists believe findings from research in WS may offer insights into overlapping conditions in the general population, including: Hypertension, which affects 74.5 million Americans age 20 or older. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. [Epub ahead of print] PMID: 22411788 Most people with Williams syndrome are highly verbal relative to their IQ, and are often very sociable, having what has been described as a "cocktail party" type personality. It is important to seek a medical evaluation if someone is suspected to have Williams syndrome. Advertising on our site helps support our mission. 570 Kirts Blvd. Williams Syndrome (WS) is a genetic condition that is present at birth and can affect anyone. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. The objective of the current investigation was to develop a personality profile that is descriptive of and distinctive to children with Williams syndrome. Williams Syndrome Diagnosis. It may also be known as Williams-Beuren syndrome. The FISH test and the Microarray. Although there is no cure for Williams syndrome, it is important to identify and treat the different medical problems that can occur with this disorder. 1999 Apr 9 [Updated 2013 Jun 13]. Williams Syndrome Williams syndrome is a genetic condition characterized by unique facial features, delayed development, learning problems, and certain personality traits. No studies specifically exist on life expectancy, although individuals have been reported to live into their 60s. Diagnosis of Williams Syndrome is guided by the symptoms you show. Diagnosis is confirmed by a blood test. Some people with Williams syndrome may have a reduced life expectancy due to complications of the disease (such as cardiovascular involvement). CORONAVIRUS: DELAYS FOR ROUTINE SURGERIES, VISITOR RESTRICTIONS + COVID-19 TESTING. When it comes from our child’s siblings, or their friends or classmates, and when they are still young, we often struggle with the answer. A syndrome is a set of symptoms t… According to the Williams Syndrome Association, the disorder occurs in roughly 1 in 10,000 people. 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.

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