 De Lange Syndrome
"De Lange Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D003635
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| MeSH Number(s) |
C10.597.606.643.210 C16.131.077.272 C16.131.260.210 C16.320.180.210
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| Concept/Terms |
De Lange Syndrome- De Lange Syndrome
- Syndrome, De Lange
- Cornelia de Lange Syndrome 1
- De Lange's Syndrome
- Syndrome, De Lange's
- Typus Degenerativus Amstelodamensis
- Amstelodamensis, Typus Degenerativus
- Brachmann-De Lange Syndrome
- Brachmann De Lange Syndrome
- Syndrome, Brachmann-De Lange
- Cornelia De Lange Syndrome
Cornelia de Lange Syndrome 2- Cornelia de Lange Syndrome 2
- CdLS2
- Cornelia de Lange Syndrome, X-Linked
- Cornelia de Lange Syndrome, X Linked
- CdLS, X-Linked
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Below are MeSH descriptors whose meaning is more general than "De Lange Syndrome".
Below are MeSH descriptors whose meaning is more specific than "De Lange Syndrome".
This graph shows the total number of publications written about "De Lange Syndrome" by people in this website by year, and whether "De Lange Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 1 | 0 | 1 | | 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "De Lange Syndrome" by people in Profiles.
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Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, Denis-Musquer M, Turnpenny PD, Coutton C, Vieville G, Thevenon J, Larson A, Petit F, Boudry E, Smol T, Delobel B, Duban-Bedu B, Fallerini C, Mari F, Lo Rizzo C, Renieri A, Caberg JH, Denomm?-Pichon AS, Tran Mau-Them F, Maystadt I, Courtin T, Keren B, Mouthon L, Charles P, Cuinat S, Isidor B, Theis P, M?ller C, Kulisic M, T?rkmen S, Stieber D, Bourgeois D, Scalais E, Klink B. Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study. Clin Genet. 2022 08; 102(2):117-122.
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Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID. Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A. 2012 Oct; 158A(10):2499-505.
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