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Williams Syndrome

 

What is Williams Syndrome?
Williams syndrome, also known as Williams-Beuren syndrome, is a rare, congenital disorder which occurs in 1 in 20,000 live births. Clinical diagnosis of Williams syndrome is based on a variety of physical and developmental characteristics. This condition is caused by missing part of the genetic material on one copy of chromosome 7. The problem is usually caused by a random mutation, so parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each child.

What are the common features of Williams syndrome?

  • Characteristic facial appearance
  • Heart and blood vessel problems
  • Elevated blood calcium levels
  • Slightly lower birth-weight / low weight gain
  • Feeding problems
  • Irritability (colic during infancy)
  • Dental abnormalities
  • Kidney abnormalities
  • Hernias
  • Sensitive hearing
  • Musculoskeletal problems
  • Overly friendly personality
  • Developmental delay, learning disabilities and attention deficit

How is Williams syndrome diagnosed?
When the common features of Williams syndrome are recognized, referral to a clinical geneticist for further diagnostic evaluation is appropriate. The technique known as fluorescent in situ hybridization (FISH) is a diagnostic test of the DNA that can detect William syndrome. The clinical diagnosis can be confirmed by a blood test.

What is the treatment?
There is no cure for Williams syndrome. Treatment is symptomatic and supportive. Individuals with Williams syndrome need regular monitoring for potential medical problems by a physician familiar with the disorder, as well as specialized services to maximize their potential.

What is the prognosis?
Some degree of mental retardation is found in about 75% of patients with Williams syndrome. Also, most patients have a shortened life expectancy, due to complications. Additionally, the majority of patients do not live independently of care givers.

Williams Syndrome and Celiac Disease

  • Researchers in Italy have shown that celiac disease coexists with Williams syndrome. In a 2001 study, Giannotti et al. found that the prevalence of celiac disease among patients with Williams syndrome was 9.6%. On this basis, Giannotti et al. recommend antibody screening for celiac disease in patients with Williams syndrome.
  • The occurrence of celiac disease in patients with Williams syndrome has been described by different authors and the minimum prevalence of celiac in Williams syndrome has been found to be 8.6%.
  • The association may be interpreted as a consequence of a more general metabolic imbalance present in chromosomal disorders.

References

  • Ashkenas, J. Williams syndrome starts making sense. American Journal of Human Genetics. 1996; 59:756–761.
  • Grilloa, Rita et al. Search for Coeliac Disease Susceptibility Loci on 7q11.23 Candidate Region: Absence of Association with the ELN17 Microsatellite Marker. Human Heredity 2000;50:180–183.
  • National Institute of Neurological Disorders and Stroke.
    Williams Syndrome Information Page.
  • Screening for celiac disease has benefits in Williams syndrome. Archives of Disease in Childhood. 2002;86:275
  • The Williams Syndrome Association.
  • Williams Syndrome Foundation.

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