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Neurofibromatosis type 1 (NF1) is a well\u2010known disease characterized by cafe\u2010au\u2010lait spots and fibromatous tumors of the skin caused by heterozygous mutations in the <jats:italic>NF1<\/jats:italic> gene. We report a male patient, 6\u2009months old at the time of the first examination and 4.5\u2009years old at the time of the second examination, with dysmorphic facial features, multiple caf\u00e9\u2010au\u2010lait spots, bilateral postaxial polydactyly, hydrocephalus, and dextrocardia. Whole exome sequencing revealed a de novo heterozygous c.4256G&gt;A (p.Arg1419His) variant in the <jats:italic>CHD4<\/jats:italic> and a heterozygous c.1411A&gt;T (p.Lys471Ter) variant in the <jats:italic>NF1<\/jats:italic> gene, compatible with the dual diagnosis of NF1 and SIHIWES. Although congenital heart anomalies have been reported as a component of SIHIWES, dextrocardia is a novel finding that has not previously been reported in this syndrome. Adding dextrocardia to the previously described findings, including polydactyly and hydrocephalus, suggests that a gene related to ciliary function may be a downstream target of <jats:italic>CHD4<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.64099","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T08:55:52Z","timestamp":1745916952000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Dual Diagnosis of Sifrim\u2013Hitz\u2013Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim\u2013Hitz\u2013Weiss Syndrome and Quick Literature Review"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4473-3932","authenticated-orcid":false,"given":"Ali","family":"Babazade","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3651-9467","authenticated-orcid":false,"given":"Tarik","family":"Duzenli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7810-258X","authenticated-orcid":false,"given":"Serdar","family":"Mermer","sequence":"additional","affiliation":[{"name":"Clinic of Medical Genetics Mersin City State Hospital  Mersin Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulsum","family":"Kayhan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102012\u201011\u2010466227"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12723"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12777"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines11010012"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00473"},{"key":"e_1_2_10_7_1","article-title":"Chd4\/NuRD Chromatin Remodeling Complex Regulates the Ventricular Conduction System","author":"El Abdellaoui\u2010Soussi F.","year":"2023","journal-title":"Epigenetic Regulation of Cardiovascular Disease"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179565"},{"key":"e_1_2_10_9_1","unstructured":"Ellard S. 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