Bloom’s Syndrome
Although more rare than some of the other genetic diseases on this list, Bloom’s disease is worth mentioning. Presently, only a few hundred individuals have been noted by medical literature, but one-third of those people have been Central and Eastern European descent or of Ashkenazi Jewish background. The condition is an inherited autosomal recessive pattern, meaning that both copies of the gene in the egg and sperm cells have the mutation. While the parents of the individual with Bloom’s syndrome often carry one copy of the gene, the parents often have no symptoms.
Bloom’s syndrome is characterized by skin rashes that develop after sun exposure and small stature, including narrow faces and jaws, prominent noses and ears. Those who have the disease are often smaller than 97-percent of the population, rarely growing larger than 5 feet in height. Affected individuals also have enlarged blood vessels that are visible beneath their butterfly rashes or in the eyes. Some have hyperpigmentation or hypopigmention in patches. Moreover, these individuals have an increased risk of developing cancer of multiple types.
