We also suggest a grouping schema for the telomere disorders. This report reviews basic aspects of telomere biology and telomere length measurement, and the clinical and genetic features of those disorders that constitute our current understanding of the spectrum of illness caused by defects in telomere biology. Similar findings have been seen in individuals with liver fibrosis or acute myelogenous leukemia. Up to 10% of individuals with apparently acquired aplastic anemia or idiopathic pulmonary fibrosis also have short telomeres and mutations in TERC or TERT. Progressively shorter telomeres are inherited from generation to generation in autosomal dominant dyskeratosis congenita, resulting in disease anticipation. DKC1, TERC, TERT, NOP10, and NHP2 encode components of telomerase or a telomerase-associated factor and TINF2, a telomeric protein. A mutation in one of six different telomere biology genes can be identified in 50–60% of these individuals. More significantly, these individuals are at very high risk of bone marrow failure, cancer, and pulmonary fibrosis. Individuals with classic dyskeratosis congenita have the most severe phenotype, characterized by the triad of nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Telomere biology disorders are a complex set of illnesses defined by the presence of very short telomeres.

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