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De Lange Syndrome

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

Year introduced: 2000(1964)

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Subheadings:

Tree Number(s): C10.597.606.360.210, C16.131.077.272, C16.131.260.210, C16.320.180.210

MeSH Unique ID: D003635

Entry Terms:

  • Typus Degenerativus Amstelodamensis
  • Amstelodamensis, Typus Degenerativus
  • De Lange's Syndrome
  • Brachmann-De Lange Syndrome
  • Brachmann De Lange Syndrome
  • Syndrome, Brachmann-De Lange
  • Cornelia De Lange Syndrome
  • Cornelia de Lange Syndrome 3
  • Cornelia de Lange Syndrome 2
  • Cornelia de Lange Syndrome, X-Linked
  • Cornelia de Lange Syndrome, X Linked
  • CdLS, X-Linked
  • CdLSs, X-Linked
  • CdLS, X Linked
  • X-Linked CdLS
  • X-Linked CdLSs
  • CdLS2
  • Cornelia de Lange Syndrome 1

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