Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome. Bloom Syndrome is inherited from two recessive traits. Thus, both parents must have the recessive trait to pass the syndrome to children. Each child has a 25% chance of being affected, 25% chance of being unaffected and 50% chance of being a recessive carrier with no symptoms.

Who is at Risk?
Bloom Syndrome appears most often in the Ashkenazi Jewish population. It is estimated that 1 in every 100 are carriers of the recessive gene. Only 170 cases of Bloom Syndrome have been diagnosed since 1954 when the condition was named. About 33% of all cases are found in the Ashkenazi Jewish population.

Symptoms

The most common symptoms of Bloom Syndrome include:

  • Short stature
  • Facial rash when exposed to sunlight (may take on a butterfly shape)
  • Long, narrow face
  • Undersized jaw
  • Large nose and ears
  • Hypo-pigmentation of the skin
  • Hyper-pigmentation of the skin
  • Immune deficiency
  • Blood dots on skin (dilated blood vessels)
  • Recurring pneumonia
  • Recurring ear infections
  • Infertility
  • Premature menopause

Complications
Patients with Bloom Syndrome are highly unlikely to have children, though there have been several cases where women have conceived before early menopause sets in. Other potential complications include increased risk of cancer, diabetes, lung disorders and mental retardation.

Diagnosis
Along with visual characteristics and an extensive medical history, doctors can order a chromosome study to diagnose Bloom Syndrome. Each child born to a set of recessive parents has a 25% chance of contracting Bloom Syndrome. This does not mean only one in four children will be born with the condition. Multiple children with the same parents could develop the condition.

Treatment

There is no known treatment for Bloom Syndrome. Due to the potential complications, patients are monitored closely by attending physicians. Cancer screenings are very important due to the increased risk of cancer.

Life Expectancy

Children born with Bloom Syndrome typically have a life expectancy of about 27 years. Most often, death occurs from cancer. As cancer treatments advance, extended life expectancy for patients with Bloom Syndrome can be expected, though treating one form of cancer may not prevent other forms of cancer from developing. Cancer may develop as one type and progress to several types of cancer, thus increasing the risk of death at an early age.