WILLIAMS-BEUREN SYNDROME

Williams-Beuren syndrome, a hereditary disease that affects a limited number of individuals is generally recognized as Williams Syndrome. It creates a slew of developmental issues, such as heart and blood vessel disorders, musculoskeletal concerns, and learning deficits. 

Despite the existence of a genetic relationship, a person can be born with the condition without a family history of it. The National Drug Abuse Institute also says that the disease is primarily caused by random, rather than inherited genetic alterations. Affected people, on the other hand, have a fifty percent risk of passing it on to their children.

SYMPTOMS

Williams-Beuren syndrome is a medical condition that occurs simultaneously. When it comes to various medical conditions, the disease is not always obvious when a person is born. Your doctor will be able to notice the onset of symptoms and establish an accurate diagnosis. Furthermore, it’s symptoms have a substantial impact on one’s health and development.

Many of the usual signs of the disease include:

  • sunken chest 
  • inward bend of pinky finger
  • farsightedness
  • disorders of learning
  • Abnormalities of kidney
  • Phobias specific
  • short stature
  • speech delays
  • ADHD
  • intellectual disability
  • low birth weight and muscle tone
  • colic or feeding problems
  • special facial characteristics, such as broad mouth, tiny upright nose, broad spaced teeth and large lips

DIAGNOSIS

Physical factors are usually used to diagnose the illness. To confirm the diagnosis, your doctor may carry out the following tests:

  • Fluorescence
  • Renal ultrasound
  • Echocardiography
  • Blood pressure test

Fluorescence is a test that uses a reagent that glows under UV light to mark DNA sequences. Moreover, all of these tests are used to detect hypertension, high blood calcium levels, slack joints, and other possible conditions. 

TREATMENT

Williams syndrome has no known treatment. However, there are alternatives that can help to alleviate the syndrome’s symptoms. Also, if symptoms are present, narrowed blood vessels could be addressed. Physical and linguistic therapy might be effective as well.

Furthermore, treatment mainly depends on the symptoms of the person. There is no one-size-fits-all approach to treatment. Besides, regular checkups are required to examine your cardiovascular system and monitor any potential abnormalities.

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