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What is Bloom Syndrome?

One third of the people in central and e astern European belonging to the Ashkenazi Jewish descent suffer from a rare genetic disorder known as Bloom syndrome. Dermatologist Dr. David Bloom discovered this condition in 1954.

The exact frequency of the affected people is not known clearly. Changes in the chemical structure of the gene BLM is the cause behind this inherited ailment. Both the parents must be the carriers for the off-spring to get this condition.

Bloom Syndrome Symptoms:

  • Short stature
  • Sun-sensitive butterfly shaped face rash
  • Small nose
  • Prominent ears
  • Long head
  • Narrow face
  • Infertility in males
  • Female subfertility
  • Gastrointestinal adenocarcinoma – Cancer developing in the inner layers of the gastrointestinal system
  • Feeding problems in babies
  • Dilated blood vessels
  • Moderate immune deficiency
  • Facial telangiectatic erythema – abnormal redness of the face skin caused by narrow blood vessles and infections in them
  • Spermatogenesis – Technical name for the process of development of the sperm cells
  • Hypopigmented patches – Loss of skin color
  • Hyperpigmented patches – Darkening of an area of the skin
  • Lymphoma – Cancer in the lymph nodes
  • Malar hypoplasia – Incomplete development of the cheek bone
  • Mild microcephaly – Smallness of the head

Complications of the condition include learning disabilities, diabetes, chronic lung disease, mental retardation and higher risks of developing cancer. Though a person suffering from this disease can get cancer at any age, in most of the known cases the average age of onset was 25 years.

Molecular DNA testing is a method by which the signs of Bloom syndrome can be diagnosed even in prenatal stages. This testing is particular common among the families where there is a member suffering from cancer caused as a complication of this condition.

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