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Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facial traits commonly reported in Axenfeld\u2010Rieger syndrome were assessed by five clinical geneticists blinded to the molecular diagnosis. Individuals were drawn from the Australian and New Zealand Registry of Advanced Glaucoma in Australia or recruited through the Genetic and Ophthalmology Unit of l'Azienda Socio\u2010Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Italy. Thirty\u2010four individuals from 18 families were included. <jats:italic>FOXC1<\/jats:italic> variants were present in 64.7% of individuals and <jats:italic>PITX2<\/jats:italic> variants in 35.3% of individuals. A thin upper lip (55.9%) and a prominent forehead (41.2%) were common facial features shared between both genes. Hypertelorism\/telecanthus (81.8% vs 25.0%, <jats:italic>p<\/jats:italic> = 0.002) and low\u2010set ears (31.8% vs 0.0%, <jats:italic>p<\/jats:italic> = 0.036) were significantly more prevalent in individuals with <jats:italic>FOXC1<\/jats:italic> variants compared with <jats:italic>PITX2<\/jats:italic> variants. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.61982","type":"journal-article","created":{"date-parts":[[2020,11,25]],"date-time":"2020-11-25T04:23:53Z","timestamp":1606278233000},"page":"434-439","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Gene\u2010specific facial dysmorphism in <scp>Axenfeld\u2010Rieger<\/scp> syndrome caused by <scp><i>FOXC1<\/i><\/scp> and <scp><i>PITX2<\/i><\/scp> variants"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2015-6577","authenticated-orcid":false,"given":"Emmanuelle","family":"Souzeau","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen M.","family":"Siggs","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-5362","authenticated-orcid":false,"given":"Francesca","family":"Pasutto","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lachlan S. W.","family":"Knight","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis A.","family":"Perez\u2010Jurado","sequence":"additional","affiliation":[{"name":"Paediatric and Reproductive Genetics Unit Women's and Children's Hospital  Adelaide South Australia Australia"},{"name":"South Australia Health and Medical Research Institute The University of Adelaide  Adelaide South Australia Australia"},{"name":"Genetics Unit, Universitat Pompeu Fabra Hospital del Mar Research Institute (IMIM) and CIBERER  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"McGregor","sequence":"additional","affiliation":[{"name":"Paediatric and Reproductive Genetics Unit Women's and Children's Hospital  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Le Blanc","sequence":"additional","affiliation":[{"name":"Paediatric and Reproductive Genetics Unit Women's and Children's Hospital  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher P.","family":"Barnett","sequence":"additional","affiliation":[{"name":"Paediatric and Reproductive Genetics Unit Women's and Children's Hospital  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Liebelt","sequence":"additional","affiliation":[{"name":"Paediatric and Reproductive Genetics Unit Women's and Children's Hospital  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,24]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Dysgenesis mesodermalis of the iris and the cornea","author":"Alkemade P.","year":"1969"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(00)00525-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5309"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.1.30"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcm.2013.06.001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00061198-200112000-00007"},{"key":"e_1_2_8_8_1","first-page":"935","article-title":"A novel forkhead box C1 gene mutation in a Korean family with Axenfeld\u2010Rieger syndrome","volume":"19","author":"Kim G. 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