Cornelia de Lange syndrome

<jats:p>Cornelia de Lange syndrome (<jats:styled-content style="fixed-case">CdLS</jats:styled-content>; <jats:styled-content style="fixed-case">MIM</jats:styled-content> #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder phenotypes have been reported. To date five genes [<jats:italic><jats:styled-content style="fixed-case">NIPBL</jats:styled-content></jats:italic> (Nipped‐B‐like protein), <jats:italic><jats:styled-content style="fixed-case">SMC1A</jats:styled-content></jats:italic> (structural maintenance of chromosomes 1A), <jats:italic><jats:styled-content style="fixed-case">SMC3</jats:styled-content></jats:italic> (structural maintenance of chromosomes 3), <jats:italic><jats:styled-content style="fixed-case">RAD21</jats:styled-content></jats:italic> (human homolog of <jats:italic>Schizosaccharomyces pombe</jats:italic> radiation sensitive mutant 21) and <jats:italic><jats:styled-content style="fixed-case">HDAC8</jats:styled-content></jats:italic> (histone deacetylase 8)] have been associated with <jats:styled-content style="fixed-case">CdLS</jats:styled-content> and mutations of these genes comprise the underlying defect in 70% of the patients. Here, we will provide a brief review of the clinical features of CdLS, summarize the known underlying genetic defects, prenatal and postnatal diagnosis possibilities, and genetic counseling.</jats:p>