Bloom Syndrome in the Best of the Web Directory

Bloom Syndrome

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Bloom syndrome or Bloom–Torre–Machacek syndrome is an autosomal recessive condition brought about by several mutations in the gene for BLM protein. It is a rare disorder centered on a person's chromosomes discovered and described by Dr. David Bloom, an American dermatologist. It can be broadly described as the occurrence of high frequency of breaks and rearrangements in the chromosomes.

A person with Bloom syndrome has short stature and facial rash that appears shortly after first exposure to the sun. Usually a butterfly-shaped patch of skin developing on the cheeks, the rash can also occur on other skin areas exposed to sunlight. In addition to the rash, Bloom syndrome also makes a person speak in a high pitched voice, have distinct facial features, possess moderate immune deficiency, and suffer hypo-gonadism leading to infertility in men and premature menopause in women.

No treatment is available for this rare disorder. The most Bloom syndrome sufferers can do is to protect their sensitive skin and employ symptomatic treatment or address conditions that may arise from or may be aggravated by the disorder such as chronic lung disease and learning disability.
  • About.com: Judaism

    Find a description of Bloom's Syndrome including the symptoms and cause.

  • The Bloom Syndrome Foundation

    Aims to fund research activities that lead to the development of a therapy for Bloom Syndrome.

  • Bloom's Syndrome Foundation

    Organization that provides funding for research aimed at the development of a therapy for Bloom's Syndrome and the prevention of its complications.

  • eMedicine

    Gives a clinical report by Dr. Amir Bajoghli pertaining to Congenital Telangiectatic Erythema.

  • Jewish Genetic Diseases: Bloom Syndrome

    Provides a description of the disorder along with information on the symptoms, incidence and carriers, treatment, and testing.

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