Cornelia de Lange syndrome

What is Cornelia de Lange syndrome?

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.

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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