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The purpose of this systematic review is to increase the awareness of orthopaedic manifestations associated with 22q11.2DS. This systematic review was performed according to the PRISMA Guidelines. Original epidemiological studies on the prevalence of orthopaedic manifestations within 22q11.2DS were systematically searched for in PubMed and EMBASE. The included articles were scored according to a risk\u2010of\u2010bias tool, a best\u2010evidence synthesis was performed and the prevalence data was extracted. Sixty\u2010nine published manuscripts described 58 orthopaedic manifestations in a total of 6,055 patients. The prevalence of at least one cervical or occipital anomaly is 90.5\u2013100% (strong evidence). Fourteen studies (<jats:italic>n<\/jats:italic>\u2009=\u20092,264) revealed moderate evidence for a wide scoliosis prevalence of 0.6\u201360%. Two studies demonstrated that 5\u20136.4% of all 22q11.2DS patients required surgical scoliosis correction. Fifteen studies (<jats:italic>n<\/jats:italic>\u2009=\u20092,115) reported a 1.1\u201313.3% prevalence of clubfoot with moderate evidence. Other reported orthopaedic manifestations are patellar dislocation (10\u201320%), juvenile rheumatic arthritis (3.75%), impaired growth and skeletal anomalies like polydactyly (1.0\u20133.7%), syndactyly (11\u201311.8%), butterfly vertebrae (11.1%) and 13 ribs (2\u201319%). Orthopaedic findings are important manifestations of the 22q11.2DS, both in bringing patients to diagnostic attention and in requiring surveillance and appropriate intervention. Data on these manifestations are scattered and incomprehensive. Routinely screening for cervical anomalies, scoliosis, and upper and lower limb malformations is recommended in this vulnerable group of patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38545","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T05:40:59Z","timestamp":1511242859000},"page":"2104-2120","source":"Crossref","is-referenced-by-count":36,"title":["Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0172-7335","authenticated-orcid":false,"given":"Jelle F.","family":"Homans","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel N.","family":"Tromp","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dino","family":"Colo","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom P. C.","family":"Schl\u00f6sser","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moyo C.","family":"Kruyt","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent F. X.","family":"Deeney","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery The Children's Hospital of Philadelphia (CHOP) and The Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terrence B.","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center The Children's Hospital of Philadelphia (CHOP) Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center The Children's Hospital of Philadelphia (CHOP) Philadelphia Pennsylvania"},{"name":"The Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9 M.","family":"Castelein","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,21]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"26","article-title":"Manifestaciones clinicas y variabilidad inmunologica en nueve pacientes con sindrome de DiGeorge","volume":"132","author":"Aglony M.","year":"2004","journal-title":"Revista Medica De Chile"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33725"},{"key":"e_1_2_7_4_1","first-page":"39","article-title":"Craniofacial morphology in the velo\u2010cardio\u2010facial syndrome","volume":"4","author":"Arvystas M.","year":"1984","journal-title":"Journal of Craniofacial Genetics and Developmental Biology"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30984"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36928"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.156"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-693X(99)80448-5"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.822"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.44.233.69"},{"key":"e_1_2_7_13_1","first-page":"1","article-title":"Adolescent idiopathic scoliosis","volume":"1","author":"Cheng J. 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