Telomere syndromes are a group of disorders characterized by short telomere defects, which are linked to various degenerative diseases. These syndromes include conditions such as dyskeratosis congenita, Hoyeraal–Hreidarsson syndrome, and Revesz syndrome, which share a common molecular defect of short telomere length. Telomeres are protective structures at the ends of chromosomes that shorten with each cell division, eventually leading to cellular senescence. Telomerase, an enzyme that adds telomeric DNA, can compensate for this shortening in some cases. However, mutations in telomerase or telomere-related genes can lead to telomere dysfunction, contributing to a range of diseases, including idiopathic pulmonary fibrosis (IPF) and aplastic anaemia. The telomere syndromes are considered a single syndrome spectrum due to their overlapping clinical features and shared genetic basis. These syndromes are highly relevant to understanding age-related diseases because the short telomere defect is acquired with age. Telomere dysfunction is also linked to cancer predisposition, as short telomeres can lead to genomic instability and increased cancer risk. The study of telomere biology has provided insights into the molecular mechanisms underlying these disorders and has highlighted the importance of telomere length in disease progression. Telomere length is heritable and can influence disease severity and type, with mutations in telomerase or telomere-related genes being a common cause of these syndromes. The telomere syndromes represent a significant area of research with implications for understanding and treating age-related diseases and cancer.Telomere syndromes are a group of disorders characterized by short telomere defects, which are linked to various degenerative diseases. These syndromes include conditions such as dyskeratosis congenita, Hoyeraal–Hreidarsson syndrome, and Revesz syndrome, which share a common molecular defect of short telomere length. Telomeres are protective structures at the ends of chromosomes that shorten with each cell division, eventually leading to cellular senescence. Telomerase, an enzyme that adds telomeric DNA, can compensate for this shortening in some cases. However, mutations in telomerase or telomere-related genes can lead to telomere dysfunction, contributing to a range of diseases, including idiopathic pulmonary fibrosis (IPF) and aplastic anaemia. The telomere syndromes are considered a single syndrome spectrum due to their overlapping clinical features and shared genetic basis. These syndromes are highly relevant to understanding age-related diseases because the short telomere defect is acquired with age. Telomere dysfunction is also linked to cancer predisposition, as short telomeres can lead to genomic instability and increased cancer risk. The study of telomere biology has provided insights into the molecular mechanisms underlying these disorders and has highlighted the importance of telomere length in disease progression. Telomere length is heritable and can influence disease severity and type, with mutations in telomerase or telomere-related genes being a common cause of these syndromes. The telomere syndromes represent a significant area of research with implications for understanding and treating age-related diseases and cancer.