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HRS may be reported in familial or sporadic cases and observed either isolated or as part of a syndromic condition. According to an extensive review of the literature, a dozen known conditions may comprise an HRS. The present review aims to propose an updated classification based on molecular pathways (chondrogenesis and osteogenesis; limb development and patterning; genome regulation), combined with a concise overview of the conditions associated with HRS. This knowledge could guide molecular analyses, patient management and genetic counselling. As some cases remain unexplained, further genetic and epidemiological studies are required to evaluate the contribution of genetic and environmental factors in HRS physiopathology.<\/jats:p>","DOI":"10.1111\/cge.70023","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T11:34:36Z","timestamp":1752752076000},"page":"379-392","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology"],"prefix":"10.1111","volume":"108","author":[{"given":"Fiona","family":"Leduc","sequence":"first","affiliation":[{"name":"CHU Lille Universit\u00e9 de Lille, Clinique de g\u00e9n\u00e9tique \u2018Guy Fontaine\u2019, ULR7364 RADEME  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mence","family":"Vanlerberghe","sequence":"additional","affiliation":[{"name":"CHU Lille Universit\u00e9 de Lille, Clinique de g\u00e9n\u00e9tique \u2018Guy Fontaine\u2019, ULR7364 RADEME  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Escande","sequence":"additional","affiliation":[{"name":"CHU Lille Universit\u00e9 de Lille, Biochimie et Biologie Mol\u00e9culaire, ULR7364 RADEME  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Brunelle","sequence":"additional","affiliation":[{"name":"CHU Lille Universit\u00e9 de Lille, Institut de G\u00e9n\u00e9tique M\u00e9dicale, ULR7364 RADEME  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Petit","sequence":"additional","affiliation":[{"name":"CHU Lille Universit\u00e9 de Lille, Clinique de g\u00e9n\u00e9tique \u2018Guy Fontaine\u2019, ULR7364 RADEME  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dieux","sequence":"additional","affiliation":[{"name":"CHU Lille Universit\u00e9 de Lille, Clinique de g\u00e9n\u00e9tique \u2018Guy Fontaine\u2019, ULR7364 RADEME  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad1005"},{"key":"e_1_2_11_3_1","unstructured":"Online Mendelian Inheritance in Man (OMIM) \u201cMcKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University (Baltimore MD) \u201daccessed January 25 2025 https:\/\/omim.org\/."},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00009957\u2010200210000\u201000009"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61583"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.007"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010019\u20101283\u20102"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.09.015"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.011"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.05.023"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33717"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61315"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61826"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2020.104918"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24021"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjaa023"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2761"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21515"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115803"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14030724"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38503"},{"issue":"6","key":"e_1_2_11_22_1","first-page":"1381","article-title":"Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type)","volume":"53","author":"Farhud D. 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