Williams Syndrome
What is Williams Syndrome?
Williams Syndrome is a development disorder. This condition affects almost every part of the human body. The syndrome almost affects every 1 in 20,000 newborns.
What is causes Williams Syndrome?
Williams Syndrome is a condition caused due toa genetic defect in which there is deletion of about 27 genes from chromosome 7.
What are the signs and symptoms of Williams Syndrome?
Physical appearance
Babies born with Williams Syndrome have a particular common set of bodily features. These features include:
- Small chin,
- Wide mouth,
- Upper lip length is longer than lower lip length,
- Small nose,
- Puffiness of the eyes
Further, children born with the Williams Syndrome may also have a specific pattern on their iris.
Weight
Most children with Williams Syndrome are of smaller stature and lower birth weight as compared to children who don’t have this condition.
Appetite
Children with Williams Syndrome have low muscle tone as a result of which they often suffer from difficulties in swallowing and digesting the food they eat. In most cases of Williams Syndrome this symptom subsides as the child grows older.
Hernia
Hernia is a condition in which the abdominal wall becomes weak due to a variety of reasons such as genetic, age, lifting weights and pregnancy. Weakening of the abdominal wall allows the contents of the abdomen to protrude through the weak spots. Hernias are quite common in children with Williams Syndrome.
Hearing
Children with Williams Syndrome are extremely sensitive to slight changes in frequencies of sound around them, thereby causing them a lot of pain.
Behaviour
Williams Syndrome patients are quite simply the friendliest people on this planet. To a child with Williams Syndrome it is extremely easy to approach and socialize with everyone around him. They have no fear of strangers at all.
Learning
Learning is extremely difficult for Williams Syndrome sufferers. Such a child could quite easily get distracted from whatever task he is performing. Physical and mental functions are often delayed in comparison to the children of the same age group who do not have Williams Syndrome.
How do we diagnose Williams Syndrome?
There are two ways to find out if your child has Williams Syndrome including:
Signs and symptoms
Look for the signs and symptoms of Williams Syndrome such as small chin and nose etc. in the child.
FISH
Fluorescent in situ hybridization or FISH is a test is used to confirm the diagnosis of Williams Syndrome. In this test, researchers look for copies of the elastin gene on chromosome 7.
If there are 2 copies of this gene than the patient does not have Williams Syndrome. However, if there is just 1 copy of this gene than the test is positive for Williams Syndrome.
How do we treat Williams Syndrome?
Given the fact that Williams Syndrome is a genetic condition, there is no cure for it. However, research is being carried out for the past few decades to come up with a solution.
