Diseases And Treatments

Williams Syndrome - What It Is, Symptoms and Treatments

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Williams Syndrome - What It Is, Symptoms and Treatmentsthis condition. In additionWilliams syndromeis a genetic disorder of chromosome 7 that affects children of both sexes and that can lead to developmental problems. This disease, which is also known asWilliams syndrome-Beuren, was named after the doctors who first described it: New Zealander J.C.P. Williams (1961) and German A. J. Beuren (1962). Its incidence rate is approximately one in 1, 00 people worldwide.

Among the clinical presentation presented by the patients, it is common the occurrence of feeding difficulty in the years of life, including vomiting, refusal to eat, may experience irritation and crying. excessive. The peculiar face is characterized by a small steep nose, curly hair, full lips, small teeth and frequent smile ("Elvish" facial appearance). It is common for patients with this disease to present a nasal voice.

Causes of Williams Syndrome:THEWilliams syndromeis caused by the absence of approximately 21 genes on chromosome seven, including those that produce elastin (the protein responsible for the formation of elastic fibers). In addition, the lack of these genes leads to renal and cardiovascular problems, and may also cause uneven development of the brain.

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Symptoms of Williams Syndrome:The main signs and symptoms ofWilliams syndromeinclude:

  • Low weight at birth;
  • Difficulty feeding during childhood;
  • Irritability;
  • Hypotonia (low muscle tone);
  • Cardiovascular problems (narrow blood vessels);
  • Cramps, reflux and vomiting in the first months of life;
  • Mild or moderate delays in cognitive development;
  • Extremely sociable and docile personality;
  • Smaller than expected height for age;
  • Low voice bell;
  • Hypercalcemia (excess of calcium in the blood);
  • Hearing hypersensitivity and hyperacusis (sensitivity to sounds);
  • Dental problems (such as spaced teeth);
  • Tendency to kidney problems;
  • Attention deficit;
  • Clinodactyly (curvature into the little finger);
  • Disturbances and learning difficulties;
  • Mild or moderate intellectual deficiency;
  • Chest carved;
  • Presence of long furrows that run from the nose to the upper lip;
  • Epicanthic pests;
  • Characteristic facial features (flat nasal bridge, strabismus, etc.).
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Williams Syndrome Treatments:THEWilliams syndromethere is no cure and therefore it is necessary to accompany the cardiologist, physiotherapist, speech therapist, and it is necessary to teach in the special school due to the mental retardation that the child has. Your pediatrician may also order blood tests frequently to check your calcium and vitamin D levels, which are usually elevated.

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