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We showcase the first Swiss registry of 796 patients with suspected or confirmed connective tissue disorders (CTD) who were referred to our center over a period of 26\u2009years between 1995 and 2022. The registry contains information on the natural history, anthropometrics, biochemical, histological, and genetic analyses. 61.3% of patients were referred by other hospitals or genetic specialists, with the primary reasons for referral being suspicion of Ehlers\u2013Danlos syndrome (EDS) (53.6%) and osteogenesis imperfecta (OI) (28.1%). Molecular confirmation of these diagnoses was obtained in 60 cases of EDS and 98 cases of OI through genetic testing. In\u2010depth analyses of 173 OI patients revealed that the majority of OI cases were caused by mutations in <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic>. Rarer variants were identified in genes involved in collagen synthesis and bone regulation. Genotype\u2013phenotype correlations were observed in a small subset of patients, with a high prevalence of glycine substitutions in <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> variants associated with severe phenotypes. This registry offers insights into the molecular underpinnings of EDS and OI and underscores the importance of genetic testing for accurate diagnosis and management.<\/jats:p>","DOI":"10.1002\/ajmg.a.64016","type":"journal-article","created":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T09:29:06Z","timestamp":1739784546000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Registry\u2010Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders"],"prefix":"10.1002","volume":"197","author":[{"given":"Olivia","family":"Abegglen","sequence":"first","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children's Research Center University Children's Hospital Zurich and University of Zurich  Zurich 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