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Typical clinical manifestations of CHH include chondrodysplasia with short stature, hair hypoplasia, combined immunodeficiency, and anemia. In addition, individuals with CHH have increased prevalence of malignancies, Hirschsprung\u2019s disease, and autoimmunity. The only curative option for immunodeficiency or severe anemia in CHH remains hematopoietic stem cell transplantation. This review summarizes 60 years of CHH research, covering genetic aspects, pathogenesis, clinical and laboratory features, as well as diagnostic and management considerations in CHH.<\/jats:p>","DOI":"10.70962\/jhi.20250142","type":"journal-article","created":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T06:21:37Z","timestamp":1758262897000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Cartilage-hair hypoplasia: A comprehensive review"],"prefix":"10.70962","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4573-3297","authenticated-orcid":true,"given":"Svetlana","family":"Vakkilainen","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/040af2s02","id-type":"ROR","asserted-by":"publisher"}],"name":"Children\u2019s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital 1 , Helsinki,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2025,10,1]]},"reference":[{"key":"2025100109555593400_bib1","first-page":"1523","article-title":"Les formes partielles de la dysostose metaphysaire","author":"Maroteaux","year":"1963","journal-title":"Presse Med."},{"key":"2025100109555593400_bib2","first-page":"285","article-title":"Dwarfism in the amish. 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