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The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the <jats:italic>FAM111A<\/jats:italic> gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad\u2010Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (<jats:italic>TBCE<\/jats:italic>) gene, by the absence of microcephaly and intellectual disability. We present a patient with KCS2 caused by a de novo pathogenic variant c.1706G&gt;A (p.Arg569His) in <jats:italic>FAM111A<\/jats:italic> gene, presenting intellectual disability and microcephaly, which are considered to be typical signs of SSS. We suggest that KCS1, KCS2, and SSS may not represent mutually exclusive clinical entities, but possibly an overlapping spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.61896","type":"journal-article","created":{"date-parts":[[2020,10,3]],"date-time":"2020-10-03T17:34:12Z","timestamp":1601746452000},"page":"3029-3034","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Overlapping phenotype comprising <scp>Kenny\u2010Caffey<\/scp> type 2 and <scp>Sanjad\u2010Sakati<\/scp> syndromes: The first case report"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0370-8461","authenticated-orcid":false,"given":"Thiago Rodrigues","family":"Cavole","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1368-2381","authenticated-orcid":false,"given":"Eduardo","family":"Perrone","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria de Fatima","family":"de Faria Soares","sequence":"additional","affiliation":[{"name":"Department of Radiology Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus R\u00e9gios","family":"Dias da Silva","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio Setsuo","family":"Maeda","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marise","family":"Lazaretti\u2010Castro","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Beatriz","family":"Alvarez Perez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,3]]},"reference":[{"issue":"1","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13633-016-0041-7","article-title":"Short stature and hypoparathyroidism in a child with Kenny\u2010Caffey syndrome type 2 due to a novel mutation in FAM111A gene","volume":"2017","author":"Abraham M. 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