Discovering and living with Blooms Syndrome
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...