Rare Diseases Column (Commentary)
Chromosomal instability syndromes—the most classical and representative types of rare diseases
Abstract
As defined, rare diseases including rare childhood cancers are any disorder or condition that is life-threatening or chronically debilitating and is statistically rare with an estimated prevalence of 5 in 10,000 people and the rare diseases are about 80% genetic based in their pathological cause. According to the announcement from national organisation for rare diseases (NORD), 1 in 10 Americans live with a rare disease and they are at high level of symptom complexity so they need special diagnostic and therapeutic strategies.