Williams-Beuren Syndrome
Discover what the causes, symptoms and treatments are of this rare genetic syndrome.
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Essay
“Williams Beuren syndrome is a genetic condition that originates from a deletion of a segment of the 7th chromosome which results in uncommon physical characteristics, development delays, and cardiovascular complications.”
The Williams Beuren syndrome, or often commonly referred to as just the Williams Syndrome, is a rare genetic condition which affects around 1 in 7,500 to 10,000 people. The condition affects cognitive development, physical characteristics and often leads to cardiovascular problems. Most Williams Beuren patients got the condition sporadically, which means that there is no apparent reason for the condition to have occurred. This essay will explore the causes, symptoms and treatments of Williams Beuren Syndrome to raise awareness and information.
It has been found that the syndrome is caused by a missing piece of the seventh chromosome. In scientific terms, it is a hemizygous deletion of chromosome 7q. Due to this deletion around 25 to 27 genes are missing, often including the Genoese ELN, GTF2I, GTF2IRD1 and LIMK1. The absence of the genes lead to a difference in physical characteristics and other symptoms. Although it is not an inherited condition, a patient with the syndrome has a 50% chance to pass it on.
There is a wide range of symptoms that can be connected to the Williams Beuren syndrome however not every patient has the same range of symptoms. It is very common to have dental abnormalities. Some patients may experience hearing loss or chronic ear infections. Hypercalcemia is another main symptom, where the patient has an elevated level of calcium. The patients may also experience sleeping problems, an unsteady walk or scoliosis. A last symptom that can be related to the syndrome is endocrine abnormalities. These abnormalities may lead to late puberty and thyroid disorders.
It is usually easy to identify someone with Williams Beuren syndrome to the set of particular physical characteristics. These help a doctor be able to diagnose a newborn with the syndrome. For instance, a newborn with Williams Beuren will often have microcephalic which means an abnormally small head, or epicanthic fold which is the skin folding around the eyelid. Other characteristics include puffy eyes and lips, a small pointed chin, full cheeks, a large forehead, prominent ears, a broad nose and finally a wide mouth. In addition to this, the eyes are a feature that is usually unique in this condition. 50% of patients will have a stellate, which is a star-like pattern in their iris. Esotropia is also common, which is when the eyes are turned inwardly. A last eye characteristic that is common in Williams Beuren is hyperopia, also known as farsightedness.
Development delays are a prevalent symptom found in children with Williams Beuren syndrome. These delays can be separated into adaptive, communication, learning, movement, and social skill impediments. Adaptive skills such as feeding independently, toileting, and dressing develop later than most children. This also applies to communication skills as the patient's first words and speech skills will develop later on. Moreover, patients with the syndrome may have intellectual difficulties that range from mild to moderate. The learning weaknesses are often with fine motor and spatial relations. Finally, the movement and mobility skills of the Williams Beuren child may be impacted as these patients often have a low muscle tone and coordination problems.
The main complication of the Williams Beuren syndrome is cardiovascular problems. During fetal development cardiac defects can occur like pulmonary or supravalvular aortic stenosis. Pulmonary stenosis is when there is an obstruction in the blood flow from the lower right chamber of the heart to the lungs. Furthermore, supravalvular aortic stenosis is the narrowing above the valve between the left ventricle and the main artery. Stenosis in WIlliams Beuren patients can lead to arrhythmia and hypertension. Although Williams Beuren patients usually have a normal life span, the cardiovascular complications may lead to cardiac arrest and a shortened lifespan.
The diagnosis of the syndrome is usually done at birth, using the facial characteristics mentioned above. However, a fluorescent in situ hybridization (FISH) test can be performed to confirm the diagnosis. This test uses ultraviolet light to detect the chromosomal arrangements to test the segment of chromosome 7q. Other, more common tests can be performed such as a kidney ultrasound and a blood pressure check. To verify for cardiovascular complication an EKG is used to check for heart irregularities.
No current cure exists for Williams Beuren syndrome, nonetheless, treatments still exist to manage the symptoms. Usually a diet that is low in vitamin D is required in order to reduce the already elevated calcium levels. There are dental and orthodontic treatments available to fix the dental malformations. Moreover, multiple types of therapy may be needed for the development of the child such as; speech and language, physical, occupational, feeding, and sensory integration therapy. Each patient is different so some might need multiple of these treatments while others may not need any. For the cardiovascular problems that may come up, surgery may be necessary in some cases. Otherwise, regular monitoring and check ups will be enough to investigate heart and blood vessel issues, or other problems.
In conclusion, Williams Beuren syndrome is a genetic condition that originates from a deletion of a segment of the 7th chromosome which results in uncommon physical characteristics, development delays, and cardiovascular complications. The syndrome is diagnosed using fluorescent in situ hybridization and is then treated with therapy, diet and/or regular check-up at a doctor.
Bibliography
Cleveland Clinic. 2021. Williams Syndrome. [online] Available at: <https://my.clevelandclinic.org/health/diseases/15174-williams-syndrome> [Accessed 5 May 2022].
Better Health Channel. 2019. Williams syndrome. [online] Available at: <https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/williams-syndrome#treatment-for-williams-syndrome> [Accessed 5 May 2022].
Herndon, J., 2017. Williams Syndrome. [online] Healthline. Available at: <https://www.healthline.com/health/williams-syndrome#treatment> [Accessed 5 May 2022].
NORD (National Organization for Rare Disorders). 2006. Williams Syndrome. [online] Available at: <https://rarediseases.org/rare-diseases/williams-syndrome/> [Accessed 5 May 2022].
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