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Cornelia de Lange syndrome

Disease definition

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

ORPHA:199

  • Synonym(s):
    • Brachmann-de Lange syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or X-linked recessive or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 122470  300590  300882  610759  614701
  • UMLS: C0270972
  • MeSH: D003635
  • GARD: 10109
  • MedDRA: 10056354

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