What is Williams Syndrome?
Williams Syndrome, also known as Williams-Beuren Syndrome. A rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental and mild developmental challenges, and distinctive facial features that typically become more pronounced with age. The disorder shows high levels of calcium in the blood and urine, and a very noticeable outgoing personality. Individuals having Williams Syndrome (WS) often will have an unusual “elfin” appearance, with a low nasal bridge and wide foreheads.
Common symptoms of the condition include:
• Specific facial features like a wide mouth
• Small upturned nose
• Widely spaced teeth
• Full lips
• Colic or feeding problems
• Speech delays
• Sunken chest
• Varying degrees of intellectual disability
• Low birth weight and muscle tone
• Kidney abnormalities
• Farsightedness
Personality traits common in people who have the condition include:
• An interest in music
• Aversion to physical contact
• Being overly friendly
• Sensitivity to loud noises
What Causes Williams Syndrome?
A disorder that is caused by the deletion of genetic material on chromosome 7.
How is Williams Syndrome Different from Down Syndrome?
Williams Syndrome and Down Syndrome are both chromosomal disorders affecting people from birth. However, Williams Syndrome is caused by a missing chromosome, while Down Syndrome is caused by an extra chromosome.
At What age is Williams Syndrome Diagnosed?
This disorder is usually observed before a child reaches the age of 4 years. In some cases, it may not be diagnosed until the child starts school.
Cure and Treatment:
There is no specific cure for Williams Syndrome. Treatment and care are focused on treating specific symptoms or cardiovascular problems. Children with Williams Syndrome who have a heart defect may need heart catheterization or surgery to repair the problem, including: ballooning or stenting of blood vessels.
Life Expectancy:
Some individuals with Williams Syndrome may have a reduced life expectancy due to complications of the disease (such as cardiovascular involvement). No studies specifically exist on life expectancy, although individuals have been reported to live into their 60’s.
Source of Information: Various Google Searches
Until next time, stay safe and well
Comentários