Bloom Syndrome - About
Genetics Home Reference
http://ghr.nlm.nih.gov/condition/bloom-syndrome
Bloom syndrome is an inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. 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...