Williams syndrome is a genetic disorder that affects the development of various parts of the body. The condition has certain unique characteristics such as mild to moderate impairment of intelligence, distinct personality features, learning disabilities, characteristic facial traits and cardiovascular abnormalities.
Individuals affected by Williams syndrome generally tend to face problems during visual-spatial tasks like banding puzzles or drawing. They usually do not have difficulties with activities that involve learning by repetition, music or language. Also, they are extroverts with charming personalities who tend to show intense interest in others. Other disorders such as anxiety problems, Attention deficit disorder and phobias are also common among the affected people.
Williams syndrome symptoms
Some of the symptoms of Williams syndrome are discussed below:
- Young children affected by the disorder have unique facial characteristics such as a short nose that has a big tip, a broad forehead, full cheeks, full lips and a wide mouth.
- The patients may also exhibit dental defects such as missing or crooked teeth as well as tiny and widely spaced teeth.
- Adults and older children with Williams syndrome may have leaner and longer faces
- Supravalvular aortic stenosis which is a type of cardiovascular disorder is common among individuals affected by Williams syndrome. The cardiovascular condition causes constriction of the aorta, i.e. the large blood vessel that transfers blood from the heart to the various tissues and parts of the body. Untreated cases of this condition can result in cardiac failure, breathing difficulties and chest pain.
- Hypertension and other forms of cardiac and blood vessels abnormalities are also associated with Williams syndrome.
- Williams syndrome may also cause additional symptoms such as irregularities of the connective tissues that can lead to loose, soft skin and joints difficulties.
- The affected individuals may have excessive blood calcium levels during infancy, coordination difficulties, delayed development and short height.
- Affected people may face vision problems such as farsightedness and abnormities of the urinary system as well as the digestive tract.
- There may be mild or moderate mental retardation
- Delay in development of speech that may later turn into powerful speaking capability as well as stronger learning by audio.
- Epicanthal folds or the presence of skin covering the inner eye corner
- There may be feeding difficulties that include reflux, colic and vomiting
- The patients tend to get easily distracted
- The small finger may bend inwards
- The chest may have a sunken appearance
- The area between the nose and upper lip may be covered by long, unusual ridges
Causes of Williams syndrome
Some of the causes of Williams syndrome are listed below:
- Williams syndrome is a rare disorder and is caused due to absent genes. A person who is affected by the condition may not have parents who have a family history of the disorder. However, an affected individual can pass on the condition to the child in fifty percent of the cases. There are no specific ways that the condition occurs and is completely random.
- Williams syndrome occurs in about 1 in 7,500 to 20,000 people.
- There are around twenty five genes that are missing in individuals with Williams syndrome. One of those genes is responsible for the production of elastin, which is a protein that enables the blood vessels and other tissues present in the body to stretch. It is believed that the constriction of blood vessels that accompanies Williams syndrome, may be caused due to the presence of only one copy of that particular gene.
Diagnosis of Williams syndrome
There are a number of tests that need to be conducted to diagnose Williams syndrome. A few of them include:
- Checkup of blood pressure
- Echocardiography that is done in combination with Doppler ultrasound
- Blood test known as FISH test to check for missing chromosome
- Ultrasound of the kidneys
Treatment of Williams syndrome
- Williams syndrome has no known cure. Treatment is focused on alleviating the symptoms that accompany the condition.
- One may avoid the intake of additional quantities of vitamin D and calcium. High levels of calcium in the blood should be given appropriate treatment.
- Individuals who experience stiffness of the joints may undergo physical therapy.
- The narrowing of blood vessels can cause serious health complications and it should be treated as per the level of severity
- Developmental and speech therapy may be employed to treat language, speech and other developmental delays
- A geneticist who has experience in dealing with the symptoms of Williams syndrome should be consulted for evaluation of the condition, so that prompt and relevant treatment can be imparted.
- There is no way to prevent the development of the condition. Individuals and couples who wish to conceive, but have a family history of Williams syndrome must go in for prenatal testing to determine the presence of the condition in the baby.
Williams Syndrome pictures
Here are photos of children, people having William Syndrome