A 4-foot, 3-inch woman sought to raise awareness this weekend of a rare syndrome known to affect just 300 people worldwide, the Chicago Tribune is reporting.
Sheryl Grossman, 33, has a master's degree from a prestigious university, a promising career and her own Web site, but her accomplishments are often overshadowed by her small stature.
At just 46 pounds, Grossman suffers from Bloom's syndrome, a rare inherited disorder first described by dermatologist Dr. David Bloom in 1954, the Tribune reported.
The condition is characterized by a high frequency of breaks and rearrangements in the chromosomes.
Grossman of St. Louis organized the first gathering of people with Bloom’s syndrome last week, according to the report. The two-day conference, held at the University of Illinois at Chicago, attracted about 40 people.
People with Bloom syndrome are much smaller than average, have a high-pitched voices, long narrow faces, small lower jaws and and prominent noses and ears. They are also at high risk for certain cancers. The disease is most prevalent in Eastern Jewish populations.
Some people also suffer learning disabilities, lung problems and immune defiency problems such as pneumonia and ear infections.
Male sufferers do not produce sperm and women enter menopause prematurely.
Dr. Nathan Ellis, a human geneticist at the University of Chicago, who organized a scientific conference on the topic, said that doctors are not yet "on the verge of any breakthrough" when it comes to Bloom syndrome. "But a number of labs are working on it, so I'm optimistic," he added.