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CDC42\u2010associated disorders encompass a broad clinical spectrum including Takenouchi\u2013Kosaki syndrome, autoinflammatory syndromes and neurodevelopmental phenotypes mimicking RASopathies. Dysregulation of CDC42 signaling by genetic defects in either DOCK6 or ARHGAP31 is also considered to play a role in the pathogenesis of Adams\u2013Oliver syndrome (AOS). Here, we report a mother and her child carrying the previously reported pathogenic <jats:italic>CDC42<\/jats:italic> variant c.511G&gt;A (p.Glu171Lys). Both affected individuals presented with short stature, distinctive craniofacial features, pectus deformity as well as heart and eye anomalies, similar to the recently described Noonan syndrome\u2010like phenotype associated with this variant. Remarkably, one of the patients additionally exhibited aplasia cutis congenita of the scalp. Multi\u2010gene panel sequencing of the known AOS\u2010causative genes and whole exome sequencing revealed no second pathogenic variant in any disease\u2010associated gene explaining the aplasia cutis phenotype in our patient. This observation further expands the phenotypic spectrum of CDC42\u2010associated disorders and underscores the role of CDC42 dysregulation in the pathogenesis of aplasia cutis congenita.<\/jats:p>","DOI":"10.1002\/ajmg.a.62009","type":"journal-article","created":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T13:00:52Z","timestamp":1607346052000},"page":"850-855","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Aplasia cutis congenita in a <scp><i>CDC42<\/i><\/scp><i>\u2010<\/i>related developmental phenotype"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9966-8937","authenticated-orcid":false,"given":"Franziska","family":"Schnabel","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Medical Center  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne 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