Contents
In line with its mission, the Editorial Board of MedTvoiLokony makes every effort to provide reliable medical content supported by the latest scientific knowledge. The additional flag “Checked Content” indicates that the article has been reviewed by or written directly by a physician. This two-step verification: a medical journalist and a doctor allows us to provide the highest quality content in line with current medical knowledge.
Our commitment in this area has been appreciated, among others, by by the Association of Journalists for Health, which awarded the Editorial Board of MedTvoiLokony with the honorary title of the Great Educator.
Williams syndrome (ZW, Williams-Beuren syndrome) was first diagnosed in 1961. It is called the disease of elven children all over the world, due to the characteristic appearance of people suffering from this disease. Williams syndrome is a group of birth defects caused by a microdeletion within one chromosome 7.
Williams syndrome is a rare disease that occurs with equal frequency among boys and girls. The differences in appearance characteristic of Williams syndrome, visible at first glance, such as the “elven face”, are followed by further, much more serious changes, with far-reaching consequences for the patient’s health and life.
Williams syndrome – diagnosis of the disease
Usually, Williams syndrome is diagnosed in infancy or childhood because routine prenatal genetic testing based on amniocentesis does not detect microdeletions. Recently, due to the increased recognition of clinical features and the introduction of reliable diagnostic tests, Williams syndrome has become one of the most frequently diagnosed genetic disorders in childhood.
Williams syndrome – symptoms
Williams syndrome is characterized by facial dysmorphic features (100%), cardiovascular diseases (most often supravalvular aortic stenosis) (80%), mental retardation (75%), and a specific cognitive profile (90%).
The disease manifests itself by characteristic features in the external appearance that become visible at the end of the first year or in the second year of a child’s life. Children suffering from Williams syndrome develop slower than their peers, both in terms of movement and intellect. Their face physiognomy (becoming visible over the years) resembles the faces of fairy-tale elves, as it stands out, among others, large jaw, small lower jaw, upturned round nose, incorrectly developed teeth. Other typical features include wide lips, pendulous cheeks and prominent cheekbones. It also happens that the ears of patients with Williams syndrome have a characteristic shape and set on.
Patients with Williams syndrome often develop heart defects, incl. supravalvular aortic stenosis and peripheral narrowing of the pulmonary arteries, as well as urinary tract defects such as bladder diverticula, hydronephrosis, narrowing of the renal artery, cysts in the kidneys, and even agenesis – kidney malformation or hypoplasia – kidney hypoplasia. Patients often suffer from vision defects (e.g. hyperopia, strabismus and – in the elderly – cataracts) or endocrine disorders (e.g. subclinical hypothyroidism, diabetes, hypercalcemia or hypercalciuria).
Williams syndrome – causes
Williams syndrome is a rare genetic disease that affects 1 in 10-20 thousand people. births. It is caused by a microdeletion (loss) of 26 to 28 genes within one of the chromosome pair 7. Loss of a fragment of a chromosome has numerous health consequences. Its result is the lack of one allele of the gene encoding elastin – an important protein found in connective tissue, which is the main component of tendons, ligaments, lung tissue and walls of larger blood vessels, hence Williams syndrome is associated with abnormalities of connective tissue and cardiovascular diseases ( especially supraventricular aortic stenosis and supraventricular stenosis). Insufficient elastin production can also cause full cheeks, a sharp or hoarse voice, bladder hernias and diverticula, common in people with Williams syndrome.
- Also read: Treacher Collins Syndrome – A Stigma for Life
Treatment of Williams syndrome
Currently, there is no causal treatment available for patients with Williams syndrome. Treatment is only symptomatic. An important element of caring for sick children, apart from treating health problems occurring in Williams syndrome, is taking care of their proper psychophysical development, as well as enabling them to contact their peers and ensuring access to appropriate education.