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| Williams syndrome - archive |
Williams syndrome of rare diseases is a rare genetic disorder that causes many of the problems of growth, and can include problems of heart and vascular problems , musculoskeletal, and learning disabilities According to the Association of Williams syndrome , the disorder occurs in approximately one person out of every 10,000 people .
According to healthline , although there is a genetic link, and a person can be born with the syndrome without a family history of it usually causes random genetic mutations, not heredity, yet affected individuals have a 50 percent chance of passing it on to their children .
The scientists found that deletion of chromosome 7 causes this condition. The deleted section contains approximately 25 genes. The gene for elastin, which gives elasticity to blood, is one of the missing genes.
What are the symptoms of Williams syndrome?
A syndrome is a group of symptoms that occur together. In some medical syndromes, the condition does not always appear at the individual's birth but when symptoms begin to develop, your doctor can notice them and make a proper diagnosis. Williams syndrome is a condition consisting of specific symptoms that significantly affect health and development .
Common symptoms of the condition include:
1: Defined facial features such as a wide mouth, a small upturned nose, widely spaced teeth, and full lips.
2: Colic or feeding problems.
3: Attention Deficit Hyperactivity Disorder (ADHD) .
4: learning disorders.
5: An inner curve of the pinky finger.
6: Terror.
7: Short stature.
8: Speech delays.
9: varying degrees of intellectual disability.
10: Low birth weight.
11: Kidney abnormalities.
12: farsightedness.
Common personality traits in people with this condition include :
1: Aversion to physical contact.
2: Sensitivity to loud noises.
How is Williams syndrome diagnosed?
The condition can usually be diagnosed by physical characteristics and the diagnosis can be confirmed by a test called fluorescent in situ hybridization (FISH). This is a laboratory test that labels DNA sequences with a chemical that glows under ultraviolet light. This allows scientists to see if a gene is missing .
Other tests to help diagnose the condition can include a kidney ultrasound, a blood pressure check, and an echocardiogram. Tests can also show high blood calcium levels, high blood pressure, drooping joints, and an unusual pattern in the iris .
There is no cure for Williams syndrome. Treatment includes relief of symptoms associated with the syndrome. Narrowed blood vessels can be treated if they cause symptoms. Physical therapy can also be helpful .
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