Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2000(1964)

MeSH Hierarchy

Tree Numbers

  1. C10w.597.606.360w.210w
  2. C16w.131w.077w.272w
  3. C16w.131w.260w.210w
  4. C16w.320w.180w.210w

AMA Style

References

  1. National Library of Medicine. De Lange Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D003635. http://id.nlm.nih.gov/mesh/2026/D003635
  2. De Lange Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Cornelia_de_Lange_syndrome
  3. De Lange Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1133289