Definition for Bloom's Syndrome

Bloom syndrome is a rare inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes, discovered and first described by dermatologist Dr. more

Bloom syndrome is a rare inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes, discovered and first described by dermatologist Dr. David Bloom in 1954. People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower jaw; and prominent nose and ears. They tend to develop pigmentation changes and dilated blood vessels in the skin, particularly in response to sun exposure. These changes often appear as a butterfly-shaped patch of reddened skin on the face. The skin changes may also affect the hands and arms. less