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The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located. \u00a9 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4799","type":"journal-article","created":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T03:58:28Z","timestamp":1678420708000},"page":"692-706","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders"],"prefix":"10.1093","volume":"38","author":[{"given":"Dominyka","family":"Batkovskyte","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"McKenzie","sequence":"additional","affiliation":[{"name":"School of Pediatrics and Child Health University of Western Australia Perth Australia"},{"name":"Genetic Services of Western Australia Perth Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-0235","authenticated-orcid":false,"given":"Fulya","family":"Taylan","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin Ozlem","family":"Simsek-Kiper","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine Hacettepe University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M","family":"Nikkel","sequence":"additional","affiliation":[{"name":"University of British Columbia Vancouver Canada"},{"name":"Provincial Medical Genetics Program BC Women's Hospital Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Saitama Children's Medical Center Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood SC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thuong","family":"Ha","sequence":"additional","affiliation":[{"name":"UniSA Clinical and Health Sciences University of South Australia Adelaide Australia"},{"name":"ACRF Cancer Genomics Facility, Centre for Cancer Biology An Alliance between SA Pathology and the University of South Australia Adelaide Australia"},{"name":"Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology An Alliance between SA Pathology and the University of South Australia Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise P","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasias Group, Department of Translational Medicine Medical Genetics, University of Campinas (UNICAMP) Campinas Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Miyahara","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Kawaguchi City Medical Center Kawaguchi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A","family":"Skinner","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood SC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A","family":"Aguirre","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica (CENAGEM), A.N.L.I.S \u201cDr. Carlos G. 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