Discovering And Living With Blooms Syndrome

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Bloom’s Syndrome (BS) is also known as congenital telangiectatic erythema and Bloom-Torre-Mackacek syndrome. The syndrome was named after its founder Dr. David Bloom. Bloom, a dermatologist from New York was the first to describe the syndrome In 1954.The syndrome is the result of an autosomal recessive disorder which is caused by mutated genes and unstable and irreparable DNA that has been re-arranged, damaged, and created cell division.

How Is Blooms Syndrome Contracted?

The syndrome cannot be contracted it is inherited. Bloom’s Syndrome is most common in people of Ashkenazi Jewish decent. It has been shown that at least one third of the reported Blooms Syndrome cases stem from people who are of Ashkenazi Jewish decent. In order for a child to inherit the gene each parent must be a carrier of at least one copy of the mutated gene. It is not uncommon for either parent to not exhibit any signs or symptoms associated with the syndrome.

What Are the Symptoms?

There are many symptoms associated with this syndrome. Some symptoms can be discovered as early as in the prenatal stages. Doctors can detect growth deficiency in an unborn fetus. They can also detect feeding difficulties, low birth rate, and short length in infancy. Also, infants may experience continuous upper respiratory tract infections and recurrent infections of the ears and lungs.

A short stature usually of less than five feet tall that is maintained throughout each stage in life is also a symptom. In affected persons who are exposed to the sun blood vessels may become dilated and a red butterfly-shaped rash may appear on their face generally in the nose and cheek area. The rash may appear on other areas of the body as well such as the forearms or hands. Cancer and other health issues like chronic obstructive pulmonary syndrome (COPD) and diabetes mellitus may present themselves at early stages in life. Some adults and children may have learning difficulties or a mental disability while others may reflect normal intelligence and intellectual abilities.

There are many distinctive facial features that a person with Bloom’s Syndrome may have like a small lower jaw; a very narrow but long face; a larger sized nose; and protruding ears. Individuals with this disorder may also have a high-pitched voice. Many problems may exist in affected individuals during adulthood such as females experiencing infertility issues and early menopause. Males also tend to have infertility issues. Affected persons may also experience diabetes, a weakened immune system and gastrointestinal reflux which can also cause continuous ear and lung infections to occur. Adults with Blooms Syndrome tend to be at risk of having several cancer diagnoses.

How is Blooms Syndrome Detected? What Is the Life Expectancy?

There are three tests which may be performed to determine whether or the syndrome is present’s can be diagnosed through blood, genetic and cell testing. Persons who have been diagnosed with the disorder are expected to live no later than 30 years of age. The life expectancy is low due to the high risk of cancer associated with the disorder.


There is currently no cure for the disorder. However, there are a few select treatment options are available. It is recommended that children, teens, and adults should undergo regular cancer screenings as early as possible. It has been shown that cancerous tumors can appear in children as early as 10 years of age. Cancer screenings can detect cancer in the body and limited sun exposure can help prevent skin rash and illnesses. Also, children’s nutritional intake should be monitored in order to ensure that they reach their maximum growth capacity.

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Robert Fogarty has 34 articles online

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Bloom's Syndrome

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Discovering And Living With Blooms Syndrome

This article was published on 2014/01/15