title: Cornelia de Lange syndrome.
abstract: Cornelia de Lange syndrome (CdLS; MIM #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 [NIPBL (Nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21) and HDAC8 (histone deacetylase 8)] have been associated with CdLS 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.
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.
authors.forename: M I
authors.initials: MI
authors.lastname: Boyle
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.
authors.forename: C
authors.initials: C
authors.lastname: Jespersgaard
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.
authors.forename: K
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.
authors.forename: A-M
authors.initials: AM
authors.lastname: Bisgaard
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics; D002675:Child, Preschool; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D004268:DNA-Binding Proteins; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006655:Histone Deacetylases / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D000098550:Structural Maintenance of Chromosome Protein 1
chemical_list: D018797:Cell Cycle Proteins; D011508:Chondroitin Sulfate Proteoglycans; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C487465:NIPBL protein, human; D009687:Nuclear Proteins; D010750:Phosphoproteins; D011506:Proteins; C429022:RAD21 protein, human; D012097:Repressor Proteins; C492318:SMC3 protein, human; D000098550:Structural Maintenance of Chromosome Protein 1; C409470:HDAC8 protein, human; D006655:Histone Deacetylases
keywords: Cornelia de Lange syndrome; HDAC8; NIPBL; RAD21; SMC1A; SMC3