- ballooning or stenting of blood vessels.
- patching of the aorta, coronary arteries or pulmonary arteries.
- a hybrid approach that involves a collaboration between the interventional cardiologist and surgeon to place stents in difficult-to-reach blood vessels.
Medication
Williams syndrome is also called:
- Beuren Syndrome
- Early Hypercalcemia Syndrome with Elfin Facies
- Elfin Facies with Hypercalcemia
- Hypercalcemia-Supravalvar Aortic Stenosis
- WBS
- Williams-Beuren Syndrome
- WMS
Therapy
#8 Common symptoms of the condition include:
- farsightedness;
- specific facial features, such as – small upturned nose, a wide mouth, full lips, and widely spaced teeth;
- kidney abnormalities;
- feeding or colic problems;
- low muscle tone;
- low birth weight;
- attention deficit hyperactivity disorder (note – some children have inattention and others both hyperactivity and inattention);
Self-care
What are the symptoms of Williams syndrome?
- developmental delays, including delays in speech and motor skills
- feeding problems or slow growth in infancy
- learning disorders
- very friendly personality and trusting of strangers
- short height
- sunken chest
- attention-deficit hyperactivity disorder (ADHD)
- anxiety or phobias
- sensitivity to loud sounds
Nutrition
Children with Williams syndrome have unique facial features that may include:
- Wide forehead
- Bridge of the nose is flattened
- Short nose with a large tip
- Wide mouth with full lips
- Small chin
- Small, widely spaced teeth
- Missing or crooked teeth
- Uneven eyes
- Folds over the corners of the eyes
- White starburst pattern around the iris, or colored part of the eye
See more
What is the prognosis for Williams syndrome?
What are some facts about Williams syndrome?
How to Treat Williams syndrome?
What are the symptoms of William syndrome?
Is there gene therapy for Williams syndrome?
Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.
How long do Williams syndrome patients live?
What Is the Life-Expectancy of Williams Syndrome? Is There a Cure? The average loss of lifespan or life expectancy is estimated to be about 10-20 years, but there is a lack of data to confirm this.
What are people with Williams syndrome good at?
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).
What is the life expectancy of a child with Williams syndrome?
People with Williams syndrome have been reported to live into their 60s. Some people with Williams syndrome may have a shortened life expectancy because of cardiac complications of the syndrome.
Is Williams syndrome a disability?
Williams Syndrome is considered to be a disability, however you cannot immediately claim SSI if your child has it because it's not a listing claim.
Is Williams syndrome fatal?
Outlook / Prognosis 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.
Does Williams syndrome make you friendly?
People with Williams syndrome are described as having exceptionally friendly personalities, extremely sensitive and empathic, and therefore are also called “love children.” Williams syndrome is a genetic disorder caused by the deletion of one of the two copies of about 26 genes found on chromosome 7 in humans [1].
Is Williams syndrome a form of autism?
Williams Syndrome (WS) is not an autism spectrum disorder (ASD), although there is some overlap between the two conditions. WS and ASD have opposite characteristics in the social domain, but share some common behavioral and cognitive deficiencies.
What does someone with Williams syndrome look like?
Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.
Is Williams syndrome a birth defect?
Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges.
Can you test for Williams syndrome while pregnant?
A through investigation of the child's blood vessels, often with an echocardiogram (similar to the ultrasound used to look at a baby during pregnancy) and an EKG. A DNA test to check for the missing genes because Williams syndrome is caused by 26-28 missing genes in a small region on one of the child's chromosomes.
What Is Williams Syndrome?
Williams syndrome is a genetic condition characterized by unique facial features, delayed development, learning problems, and certain personality t...
What Causes Williams Syndrome?
Williams syndrome is caused by a deletion, or missing piece, of a region on chromosome 7. Some important points to know about this genetic conditio...
What Are The Symptoms of Williams Syndrome?
Williams syndrome may cause a range of developmental issues and symptoms. The condition is typically diagnosed in infancy or early childhood. Not a...
What are the symptoms of Williams syndrome?
Other common features of Williams syndrome include: 1 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 2 Feeding difficulties in infancy, often leading to poor growth 3 Shorter than average height 4 Low body tone (hypotonia) and hyperextensible joints, which may result in delayed developmental milestones such as sitting and walking 5 Unique personality traits: overly friendly (lack of “stranger danger”), attention problems, excessive empathy, specific phobias, anxiety 6 Sleep problems 7 Speech delay in early childhood, although speech later becomes a relative strength 8 Intellectual disability, usually in the “mild” range 9 Endocrine abnormalities: elevated calcium level (particularly in infancy), hypothyroidism, early puberty, diabetes in adulthood 10 Farsightedness and/or eyes which do not align 11 Chronic ear infections and/or hearing loss 12 Dental abnormalities, such as poor enamel and small or missing teeth 13 Scoliosis (abnormal curvature of the spine) 14 Unsteady gait and/or tremor in adulthood
What are the characteristics of Williams syndrome?
Williams syndrome is a genetic condition characterized by unique facial features, delayed development, learning problems, and certain personality traits. People with Williams syndrome tend to have cardiovascular disease, connective tissue changes, and endocrine abnormalities.
What test is done to check for Williams syndrome?
The geneticist may also: 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.
Why is it important to seek a medical evaluation if someone is suspected to have Williams syndrome?
Some people with Williams syndrome may have a reduced life expectancy due to complications of the disease ( such as cardiovascular involvement).
Is Williams syndrome the same as cardiovascular disease?
The condition is typically diagnosed in infancy or early childhood. Not all people with Williams syndrome will have the same set of symptoms. One of the more serious features of Williams syndrome is cardiovascular disease.
Do people with Williams syndrome inherit the condition?
This means that most people with Williams syndrome have not inherited the condition from a parent. People with Williams syndrome have a 50% chance of passing the condition on to each of their offspring.
Can Williams syndrome cause a heartbeat?
Narrowing of various blood vessels is common, especially peripheral pulmonic stenosis and supravalvular aortic stenosis, which can lead to increased blood pressure, arrhythmia (irregular heartbeat ) and ultimately cardiac failure. Cardiac involvement is often one of the first signs that a child may have Williams syndrome.
What kind of doctor treats Williams syndrome?
An ophthalmologist can help treat hyperopia, which is a common symptom in patients with Williams syndrome. Therapists and psychologists can improve the mental wellbeing and motor functioning of those with Williams syndrome.
What is Williams syndrome?
By. HealthPrep Staff. Williams syndrome is a disorder that adversely affects the development of the body. It is an uncommon genetic disorder that causes the afflicted individual to experience a series of symptoms and problems with learning. Common symptoms include issues with the heart, kidneys, blood vessels, and other vital organs.
How does Williams syndrome affect blood pressure?
Individuals who have Williams Syndrome experience serious problems with their heart and blood vessels. One of the symptoms that afflict them is the narrowing of their arteries. This contraction doesn't allow enough essential oxygenated blood to reach the heart. Not only does it cause a decrease in blood flow, but it also elevates blood pressure and harms the heart. If blood pressure gets too high, it can lead to a stroke or a heart attack. Individuals suffering from Williams syndrome can take medication to help lower blood pressure and dilate the blood vessels. Beta blockers are effective drugs that can keep hypertension at bay. They widen the blood vessels and increase blood flow to the heart, preventing any dangerous buildups from occurring.
How can occupational therapists help with Williams syndrome?
Occupational therapists can help patients with visual-spatial issues by improving their fine muscle control. They also help with feeding problems. Williams syndrome patients often have speech problems due to muscle tone weakness associated with speaking and processing speech patterns.
What are the complications of Williams syndrome?
Individuals suffering from Williams syndrome have many bodily problems. Their heart, kidneys, blood vessels, and other vital organs are greatly compromised, which can cause life-threatening issues.
Can you eat sugary drinks with Williams syndrome?
Individuals with Williams syndrome are prone to metabolic disorders, like diabetes, so they should try avoiding sugary beverages and snacks to minimize their risk. Continue reading to discover the next method of treating Williams syndrome.
Does Williams syndrome cause a stroke?
Not only does it cause a decrease in blood flow, but it also elevates blood pressure and harms the heart. If blood pressure gets too high, it can lead to a stroke or a heart attack. Individuals suffering from Williams syndrome can take medication to help lower blood pressure and dilate the blood vessels.
What is the best treatment for Williams syndrome?
Children with Williams syndrome often have visual-spatial deficits and difficulty with fine muscle control, such as picking up small objects. Occupational therapy primarily addresses fine motor skill development in children with Williams syndrome, but is also your source for help with feeding issues and sensitivity to textures.
What is Williams syndrome therapy?
Therapeutic Interventions. Nearly every individual with Williams syndrome will benefit from therapeutic intervention to help overcome developmental delays, joint problems, fine motor issues and other characteristics common to Williams syndrome. Your physician can help you determine the need for therapy or provide a referral to have your child ...
What is Tomatis therapy?
This therapy/program employs an electronic listening device in different, individually tailored treatment stages. The Tomatis program does not focus on hearing, but with the functional, social, and psychological factors that bear on listening, communication, language, motor control, learning, and health in general.
Do districts provide therapy for Williams syndrome?
However, districts will only provide therapy to overcome weaknesses that are a "road block" to a child's successful education. For some delays, private services are the only answer. Therapeutic Informational sheets were created for the WSA by therapists with a depth of knowledge about Williams syndrome.
Can Williams syndrome cause delayed speech?
SPEECH THERAPY. Onset of speech is often delayed in children with Williams syndrome and articulation can be affected by muscle tone issues. Once speech has been acquired children often experience difficulties with processing information. A speech therapist can address all speech/language related issues. Speech therapy should be provided by ...
Can Williams syndrome be treated with physical therapy?
Children with Williams syndrome can have balance problems and weak muscle tone. Physical therapy will address gross motor skill development in children with Williams syndrome. Physical therapy should be provided by a licensed Physical Therapist. You can obtain more information about Physical therapy by visiting the website ...
Does hippotherapy help with Williams syndrome?
Hippotherapy can have benefits to children with Williams syndrome, as with any child with a disability. Hippotherapy has had positive results reported by parents of children with WS. Per the American Hippotherapy Association: "Hippotherapy is a term that refers to the use of the movement of the horse as a treatment tool by Physical Therapists, ...
What are the tasks that people with Williams syndrome do?
People with Williams syndrome typically have difficulty with tasks such as drawing and assembling puzzles. They tend to do well on tasks that involve spoken language, music, and learning by repetition. [1]
What is Williams syndrome?
Listen. Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability ; unique personality traits; distinctive facial features; and heart and blood vessel problems. [1] . Williams syndrome is caused by a person missing more than 25 genes from a specific area ...
What is the most common medical condition associated with Williams syndrome?
Attention deficit disorder (ADD), problems with anxiety, and phobias are common. [1] The most significant medical problem associated with Williams syndrome is a form of heart 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).
What are the abnormalities of connective tissue?
abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin; increased calcium levels in the blood (hypercalcemia) in infancy; developmental delays; problems with coordination; short stature; vision and eye problems;
What happens if you don't treat Williams syndrome?
If this condition is not treated, it can lead to shortness of breath, chest pain, and heart failure. The presence of other heart and blood vessel problems has also been reported. [1] Additional signs and symptoms of Williams syndrome may include: [1] abnormalities of connective tissue (tissue that supports the body's joints and organs) ...
How many genes are missing in Williams syndrome?
Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a " deletion "). [1] [2] The loss of these genes contributes to the characteristic features. [1] . Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family ...
Is Williams syndrome inherited?
Most cases of Williams syndrome are not inherited. The condition typically occurs due to random events during the formation egg or sperm cells in a parent. Therefore, it most often occurs in people with no family history of Williams syndrome.
How to help people with PWS?
People with PWS have difficulty controlling their emotions. Using behavioral therapy can help. Stubbornness, anger, and obsessive-compulsive behavior, including obsession with food, should be handled with behavioral management programs using firm limit-setting strategies. Structure and routines also are advised. 1, 5.
Who should treat curvature of the spine?
Treatment of curvature of the spine by an orthopedist. An orthopedist should evaluate and treat, if necessary, curvature of the spine (scoliosis).
What is group home for PWS?
Placement in group homes during adulthood. Group homes offer necessary structure and supervision for adults with PWS, helping them avoid compulsive eating, severe obesity, and other health problems. 2.
Can scoliosis be treated with PWS?
Treatment will be the same as that for people with scoliosis who do not have PWS. Sleep studies and treatment. Sleep disorders are common with PWS. Treating a sleep disorder can help improve the quality of sleep.
Cause
Genetics
Diagnosis
Treatment
Specialist to consult
Contraindications
- Although a genetic link is present, a person can be born with the syndrome without having a family history of it. According to the National Institute of Neurological Disorders and Stroke, random genetic mutations, not heredity, usually cause the condition. Affected individuals do, however, have a 50 percent chance of passing it on to their children.
Prognosis
- Scientists found that a deletion in chromosome 7 causes this condition. The deleted section contains approximately 25 genes. The gene elastin, which gives elasticity to the blood, is one of the missing genes. Without it, heart defects and disorders of the circulatory system are common.
Prevention
- The condition can typically be diagnosed by physical characteristics. The diagnosis can be confirmed by doing a test called fluorescent in situ hybridization (FISH). This is a lab test that labels DNA sequences with a chemical that lights up under ultraviolet light. This enables scientists to see if the gene is missing or not. Other tests to help diagnose the condition can incl…