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The aim of this study is to compare the molecular pathogenesis and prognostic features of 12 different osteosclerotic diseases. Thirty-four patients from 23 families were included, 25 of whom were followed for a period of one to 22\u00a0years. Exome sequencing was performed in 20 families. Primary hypertrophic osteoarthropathy (PHOAR1\/2) was found in 12 patients, followed by juvenile Paget\u2019s disease (JPD)-5 in five, craniometaphyseal dysplasia (CMD) and Camurati-Engelmann disease (CED) in four, Ghosal hematodiaphyseal dysplasia (GHDD) in three patients, sclerosteosis-1 in two patients, and ultra-rare diseases including trichothiodystrophy-1, prenatal Caffey disease, melorheosteosis, and Lenz-Majewski hyperostotic dwarfism in one patient each. Patients with CMD and sclerosteosis-1 had severe cranial sclerosis leading to facial dysmorphism. CMD was characterized by metaphyseal widening, radiolucency, and diaphyseal sclerosis of the long bones\u00a0in early childhood and later developed Erlenmeyer flask deformity\u00a0sparing the vertebrae and pelvis, whereas sclerosteosis-1 manifested as generalized sclerosis. CED and GHDD share bone pain, difficulty\u00a0in walking, and diaphyseal sclerosis, with some patients also having bone marrow involvement. Interestingly, patients with CED and JPD-5 showed osteopenia in early childhood, followed by the development of osteosclerosis in late childhood. Clinical and radiologic findings improved over time in PHOAR1 patients, whereas they progressed in JPD-5 and trichothiodystrophy-1 patients. Intra- and interfamilial clinical differences were observed in CMD, CED, JPD-5, and GHDD. The knowledge gained about the natural history of osteosclerotic diseases will make an important contribution to their diagnosis and management.<\/jats:p>","DOI":"10.1007\/s00223-025-01366-w","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T17:27:24Z","timestamp":1744133244000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders"],"prefix":"10.1007","volume":"116","author":[{"given":"Dilek","family":"Uluda\u011f Alkaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"Usluer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"Alp \u00dcnkar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"\u015eeker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130brahim","family":"Adaletli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nilay","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u0131za","family":"Madazl\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u0131nar","family":"Kad\u0131o\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Derbent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9620-5021","authenticated-orcid":false,"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,4,8]]},"reference":[{"issue":"5","key":"1366_CR1","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1016\/j.beem.2018.06.003","volume":"32","author":"E Boudin","year":"2018","unstructured":"Boudin E, Van Hul W (2018) Sclerosing bone dysplasias. 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Informed consent and permission for the publications of photos of children were obtained from all patients\/parents. The study was approved by local ethics committee (Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, No: 14\/04\/2020\u201354123).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Written informed consent was obtained from the patients or parents.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}},{"value":"The study was carried out in accordance with the Declaration of Helsinki of the World Medical Association.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights"}}],"article-number":"59"}}