Searching for proper criteria to add new and rare conditions to the Progeroid Syndromes category

Abstract

The progeroid syndromes represents a group of rare diseases that presents clinical aspects of physiological aging at early stages of life. These syndromes share many clinical features such as craniofacial features, skin, hair and nails alterations, neurodevelopment and motor disorders and premature-onset malignancies. Primrose syndrome is a rare autosomal dominant disorder caused by de novo heterozygous missense variants in ZBTB20 and exhibits as main clinical manifestations craniofacial features, intellectual disability, hypotonia, postnatal-onset macrocephaly, behavior abnormalities, progressive musculoskeletal and motor involvement and endocrine dysfunctions. Anchored in previous works that discussed the physiopathology and clinical spectrum of progeroid syndromes and also the molecular, genetic and clinical hallmarks of Primrose syndrome, this letter highlights the hypothesis that Primrose syndrome could be classified as a progeroid syndrome. This possibility might not only amplify our understanding of progeroid syndromes but also might have impact in the treatments available and offered to patients with rare diseases.