Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Diagnosis and Treatment Involved in William's Syndrome

Robert Heinlein^{* *}Correspondence: Robert Heinlein, Department of Neurobiology, University of Massachusetts Medical School, Massachusetts, USA, Email:

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Description

William’s syndrome (WS) is a rare hereditary condition that has a wide range of physical effects. Broad foreheads, undeveloped chins, small noses, and large cheeks were common facial characteristics. People with WS often show mild to moderate intellectual handicap, with specific difficulties when performing abilities like painting and Vocabulary abilities are largely unaffected. Many WS individuals have an open attitude to interacting with others, and have a different perspective on life. Dental conditions, heart conditions (particularly supravalvular aortic stenosis), and elevations in blood calcium levels are all rather prevalent. The removal of about 27 genes from the long arm and one pair of chromosomes 7s is the genetic defect that causes Williams syndrome. Usually, this happens at random during formation of egg or sperm from which a person develops. In a few circumstances, it is inherited autosomal predominant from an affected parent. The deletion of particular genes has been related to the various defining characteristics.

Symptoms

William’s syndrome is most frequently characterised by heart problems and peculiar facial traits. Low muscular tone and inadequate infant weight gain (failure to thrive), Widely spaced teeth, a large philtrum, and a flattened nasal bridge Puffiness around the eyes, a lengthy philtrum, and a stellate pattern in the iris are typical features of WS patients.

Most William’s Syndrome patients have high verbal capacity compared to their intelligence, and are frequently described as "cocktail party" personality. During social interactions, people with William’s syndrome hyper focus on the eyes of others. Symptoms are usually used to make a preliminary diagnosis, and genetic testing.

Causes

William’s syndrome is a micro deletion disease that caused by the spontaneous deletion of genetic material from the 7q11.23 chromosomal region. The 25-27 genes in this area are immunodeficient and are expressed as a result of this hemizygous deletion. Among the genes commonly deleted genes are CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1. The extracellular matrix protein elastin is produced by the ELN gene, and hemizygosity for this gene is linked to connective-tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis and supravalvular pulmonary stenosis).

Hernias, bladder diverticula, distinct faces, rough or harsh voices and collagen insufficiency are additional characteristics frequently observed in Williams syndrome patients. The typical difficulty with visual-spatial skills may be explained by hemizygosity in LIMK1, GTF2I, GTF2IRD1, and perhaps other genes. The hemizygosity in several of these genes, including CLIP2, may also play a role in the distinct behaviours, learning impairments, and other cognitive challenges identified in William’s Syndrome (WS).

Diagnosis

During the Diagnosis Physical symptoms and markers are first recognised, and then a genetic test is performed. Physical symptoms and markers are first recognised, and then a genetic test is performed to confirm the diagnosis. Cardiovascular issues, particularly aortic or pulmonary stenosis, and feeding issues in babies are physiological signs that frequently confirm a WS diagnosis. Developmental delays are frequently perceived as the initial sign of the syndrome.

Treatment

The William’s Syndrome condition has no known treatment. The goal of treatment is to reduce the syndrome's associated symptoms. If symptoms arise from narrowed blood arteries, they can be treated. Speech and physical therapy can both be beneficial.

Conclusion

William’s syndrome is a developmental disorder that affects many parts of the body and it is associated with poor social inhibition. The aim of treatment is to reduce the symptoms of the illness and it is possible to treat symptoms that are caused by blocked blood vessels. Developmental delays are frequently perceived as the initial sign of the syndrome.