What is Williams Syndrome ?
It is a disorder that is genetic and occurs at birth. This condition can affect anyone. It is a developmental condition, which can affect many parts of the body. A person with this condition has mild to moderate intellectual disabilities, some distinctive facial features, learning problems, unique personalities, as well as cardiovascular complications.
Although people with Williams syndrome have problems with visual-spatial tasks such assembling puzzles and drawing diagrams, on the other hand, they tend to do well in other tasks like music, spoken language, and repetitive learning or rote memorization. These people also have peculiar characteristics such as engaging personalities, being outgoing, and show extreme interest in other people. Other problems witnessed in people with the disorder are attention deficit disorder, phobia, and anxiety.
Causes
Williams syndrome occurs when there is deletion of genetic materials in particular region of chromosome 7. There are more than 25 genes involved in the deleted region. The loss of different genes leads to various abnormalities in a person. Some of the genes involved are ELN, CLIP2, LIMK1 and many others.
When there is lose of ELN gene, a person develops abnormalities within the connective tissue. A person also has cardiovascular problems like supravalvular aortic stenosis. When deletion of LIMK1, GTF2IRD1, GTF2I and CLIP2 genes occurs within chromosome 7, a person experiences cognitive difficulties like visual-spatial tasks and unique behavioural characters.
Deletion of GTF2IRD1 gene causes distinctive facial features. If the part of genes deleted from the chromosome contains NCF1 gene, a person is less likely to develop hypertension. The loss of the NCF1 gene in people with Williams syndrome provides protection against development of hypertension. Those people whose NCF1 gene is not lost together with the deleted genes have a higher risk of developing high blood pressure.
Williams Syndrome Symptoms
Different symptoms manifest in a person suffering from Williams syndrome and they include characteristic facial appearance, cardiovascular problems, hypercalcemia, musculoskeletal, learning disabilities, and other developmental disorders. Young people with Williams syndrome have small upturned nose, wide mouth, small chin, full lips, long upper lip length, and puffiness around eyes. The facial features become more prominent with age.
People with Williams syndrome have complications with heart and blood vessels. They are likely to have narrowed aorta, which leads to supravalvular aortic stenosis. Pulmonary arteries may also narrow down. The increased risk of narrowing blood vessels and high blood pressure calls for close monitoring of the cardiac state.
Elevated blood calcium or hypercalcemia may also occur in children with this condition. The exact cause of hypercalcemia in people with Williams syndrome is unknown. The hypercalcemia may lead to extreme irritability and symptoms related to colic disease. The problem may resolve in its own but problems with vitamin D and calcium may persist for a long time within an individual.
Low birth weight is another problem associated with Williams syndrome. Children with this condition have slow weight gain or low birth weight when compared to other children of their age. In addition, the adult stature is smaller than the normal. Infants with this genetic disorder have problem in their feeding patterns due to low muscle tone, poor suck, severe gag reflex and tactile defensiveness but these feeding problems may resolve as the child becomes older.
In addition, colic symptoms may occur characterized by irritability during infancy. Colic may cause sleeping problems. The teeth of a child may be widely spaced and there may be other abnormalities such as tooth shape, bite, and appearance. This may prompt orthodontic corrections. Other problems include abnormalities with kidney function and structure.
Children suffering from Williams syndrome may have sensitive hearing where some noise levels may be startling or painful to the child. Musculoskeletal problems such as low muscle tone and laxity of joints are other symptoms in children with Williams syndrome. Joint stiffness may develop, as a child grows older.
There is excessive social and friendly character witnessed in children with the condition. They tend to be overly friendly and have strong expressive language skills. They are also very polite and unafraid to strangers. They have greater contact with adults than young people of their age. The patients may also experience learning disabilities, delay in development and attention deficit disorder.
Treatment
Although there is no cure for Williams syndrome, treatment can be done to relieve the symptoms. The treatment will depend on the symptoms and signs present. Medical care requires a multidisciplinary approach since the condition is a multisystem medical disorder.
Hypercalcemia may be asymptomatic and resolves in a few years but it may also be lifelong calling for appropriate medical care. Restriction of calcium and vitamin D intakes may be offered. Use of bisphosphonates may be necessary to control the elevated calcium levels. Hypertension also needs to be treated. Growth hormone deficiency may require management to help in bone age and short stature. Feeding problems also require treatment and dental deformities may be corrected. Supravalvular aortic stenosis may require surgical procedure to correct the problem in blood vessel.
Life Expectancy for Williams Syndrome Patients
The life expectancy is lower than the average life span of a healthy individual. In 75-80 percent cases, there is evidence of mental instability. These patients need close monitoring, love and care.
Williams Syndrome Pictures
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