Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Cornelia de Lange Syndrome

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Development, behaviour and autism in individuals with SMC1A variants

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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, pre- 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, SMC1A, SMC3, RAD21 and HDAC8) 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 Cornelia de Lange syndrome, summarize the known underlying genetic defects, pre- and postnatal diagnosis possibilities, and genetic counseling.

Original languageEnglish
JournalClinical Genetics
Volume572
Issue number1
Pages (from-to)2015 Nov 1;572(1):130-4.
ISSN0009-9163
DOIs
Publication statusPublished - 2015

ID: 44553150