Bloom syndrome

Symptoms

Are there characteristic physical features associated with Bloom syndrome?

People with Bloom syndrome are generally smaller than 97% of the population in both height and weight. Their skin is very sensitive to sun exposure, and they usually develop a patch of reddened skin across the nose and cheek that is shaped like a butterfly. Other areas, such as the back of the hands and the forearms can also develop a rash with small areas of enlarged blood vessels (telangiectases). Other areas of the skin not exposed to the sun may be lighter (hypopigmented) or darker (hyperpigmented) than the surrounding area.

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Are there psychiatric conditions associated with Bloom syndrome?

Does anything make Bloom syndrome worse?

What are the main symptoms of Bloom syndrome?

What are other features of Bloom syndrome?

Are there earlier onset, later onset, or variant forms of Bloom syndrome?

What health problems should I look for in Bloom syndrome?

Are there learning problems associated with Bloom syndrome?

Are there one or two “’odd” or “unusual” symptoms or clinical features of Bloom syndrome?

Are there psychiatric conditions associated with Bloom syndrome?

There are not psychiatric conditions associated with Bloom syndrome.

Does anything make Bloom syndrome worse?

Sun exposure to the face should be avoided because people with Bloom syndrome are unable to repair the DNA damage that occurs as a result of ultraviolet light.

What are the main symptoms of Bloom syndrome?

The main symptoms of Bloom syndrome include exceptionally small size with roughly normal body proportions and a slightly smaller head, a long narrow face with prominent nose and ears, skin that is sensitive to the sun causing a butterfly shaped patch of reddened skin across the nose and cheeks, and an increased risk, or chance, of cancer with affected individuals often developing more than one type of cancer.

What are other features of Bloom syndrome?

Other features of Bloom syndrome include a high-pitched voice, learning disabilities, an increased risk of developing diabetes, chronic obstructive pulmonary disease (COPD), and infections of the upper respiratory tract, ears, and lungs during infancy that may occur several times.

Are there earlier onset, later onset, or variant forms of Bloom syndrome?

There are not earlier onset, later onset, or variant forms of Bloom syndrome. The small size often associated with Bloom syndrome is apparent from birth and usually followed shortly after by feeding problems and severe reflux.

What health problems should I look for in Bloom syndrome?

Bloom syndrome causes an increased risk of developing cancer. People with this condition can develop cancer of any type, but the cancer usually develops at much younger ages than in people without Bloom syndrome. It is not uncommon for people with Bloom syndrome to develop more than one type of cancer.

People with this condition have an increased risk of developing chronic obstructive pulmonary disease (COPD) and recurrent infections of the upper respiratory tract, lungs, and ears during infancy. They also have an increased risk of developing diabetes at an earlier age. The type of diabetes seen in people with Bloom syndrome is not yet well described. It seems to be similar to the usual adult-onset type of diabetes but it starts at a much earlier age.

Are there learning problems associated with Bloom syndrome?

Mild learning problems have been described in Bloom syndrome but they have not been well studied.

Are there one or two “’odd” or “unusual” symptoms or clinical features of Bloom syndrome?

Unusual symptoms or clinical features of Bloom syndrome include their small but proportionate size and butterfly-shaped patch of reddened skin across the nose and cheeks that gets worse after sun exposure.

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