Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy w
Williams Syndrome is a genetic disorder that is present at birth and is characterised by medical conditions like cardiovascular disease, developmental delays and learning disabilities alongside striking verbal abilities, highly social personalities and an affinity for music. Mostly the syndrome occurs genetically but an individual may be born with the syndrome with having no family history of it. Unlike other disorders, children with William syndrome tend to be social, friendly and endearing.
Signs and Symptoms of Williams Syndrome
A syndrome is a occurrence of set of symptoms together. In some medical syndromes, the condition is not always apparent when an individual is born. An appropriate can only be done when you about the symptoms .Williams syndrome may have specific symptoms that significantly impact health and development.
Some of the common symptoms of the condition include:
- specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips
- Feeding problems
- Attention deficit disorder
- Learning disorders
- Having specific phobias
- short stature
- Delayed speech
- Sunken chest
- Varying degrees of mental retardation
- Low birth weight and muscle tone
- kidney abnormalities
Personality traits common in individuals with the condition include an interest in music, aversion to physical contact, being overly friendly, and sensitivity to loud noises.
The condition can typically be diagnosed by its physical characteristics. A test called FISH or fluorescent in situ hybridization is done to confirm the diagnosis. FISH is a lab test that labels DNA sequences with a chemical that lights up under ultraviolet light to enable the scientists to see if the gene is missing or not.
Other tests to help diagnose the condition can include a kidney ultrasound, blood pressure check, and an echocardiogram. Tests can also show high blood calcium levels, high blood pressure, slack joints, and unusual patterning in the iris of the eye.
Although there is no cure for Williams syndrome but the treatment is done to provide relief from the symptoms connected to the syndrome. Physical therapy and speech therapy can be beneficial for treating this syndrome. There is no standard treatment protocol as treatment is based on the individual’s symptoms. Regular checkups are necessary to evaluate the cardiovascular system and monitor any possible problems. People who have Williams syndrome should not take extra calcium and vitamin D for the blood levels of theses minerals are already high.
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