Cornelia de Lange syndrome

What is Cornelia de Lange syndrome?

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.).

Other condition names

  • Brachmann-de Lange syndrome

Inheritance type

Autosomal dominant, Not applicable, X-linked recessive

Age of Onset

  • Antenatal
  • Neonatal
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