{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:44:17Z","timestamp":1792183457200,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,4,21]],"date-time":"2018-04-21T00:00:00Z","timestamp":1524268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>Biallelic variants in <jats:italic>FAT4<\/jats:italic> are associated with the two disorders, Van Maldergem syndrome (VMS) (<jats:italic>n<\/jats:italic>\u2009=\u200911) and Hennekam syndrome (HS) (<jats:italic>n<\/jats:italic>= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the occurrence of neonatal hypotonia and feeding problems, hearing loss, tracheal anomalies, and osteopenia in VMS, and lymphedema in HS. VMS can be caused by autosomal recessive variants in <jats:italic>DCHS1<\/jats:italic> as well, and HS can also be caused by autosomal recessive variants in <jats:italic>CCBE1<\/jats:italic> and <jats:italic>ADAMTS3<\/jats:italic>. Here we report two siblings with VMS and one girl with HS, all with <jats:italic>FAT4<\/jats:italic> variants, and provide an overview of the clinical findings in all patients reported with <jats:italic>FAT4<\/jats:italic> variants. Our comparison of the complete phenotypes of patients with VMS and HS indicates a resemblance of several signs, but differences in several other main signs and symptoms, each of marked importance for affected individuals.<\/jats:p>","DOI":"10.1002\/ajmg.a.38652","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T04:10:11Z","timestamp":1524370211000},"page":"1166-1174","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0113-783X","authenticated-orcid":false,"given":"Ivan","family":"Ivanovski","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Pediatrics AUSL\u2010IRCCS, Reggio Emilia  Italy"},{"name":"Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine University of Modena and Reggio Emilia  Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5510-4673","authenticated-orcid":false,"given":"Susan","family":"Akbaroghli","sequence":"additional","affiliation":[{"name":"Clinical Genetics Division, Faculty of Medicine, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Pollazzon","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Pediatrics AUSL\u2010IRCCS, Reggio Emilia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Gelmini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Pediatrics AUSL\u2010IRCCS, Reggio Emilia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano Giuseppe","family":"Caraffi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Pediatrics AUSL\u2010IRCCS, Reggio Emilia  Italy"},{"name":"Laboratory of Translational research AUSL\u2010IRCCS, Reggio Emilia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahboubeh","family":"Mansouri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy, Faculty of Medicine, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Chavoshzadeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy, Faculty of Medicine, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Rosato","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Pediatrics AUSL\u2010IRCCS, Reggio Emilia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Polizzi","sequence":"additional","affiliation":[{"name":"Department of Otorhinolarynogology and Audiology AUSL\u2010IRCCS, Reggio Emilia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Gargano","sequence":"additional","affiliation":[{"name":"Department of Neonatology AUSL\u2010IRCCS, Reggio Emilia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marielle","family":"Alders","sequence":"additional","affiliation":[{"name":"DNA Diagnostics Laboratory, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7684-3982","authenticated-orcid":false,"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Pediatrics AUSL\u2010IRCCS, Reggio Emilia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Academic Medical Center University of Amsterdam Amsterdam the 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