"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
|
| MeSH Number(s) |
C10.597.606.643.210 C16.131.077.272 C16.131.260.210 C16.320.180.210
|
| 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
|
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,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 2 | 0 | 2 |
| 2018 | 0 | 1 | 1 |
| 2019 | 2 | 1 | 3 |
| 2020 | 2 | 1 | 3 |
| 2021 | 1 | 0 | 1 |
| 2023 | 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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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A. 2023 08; 191(8):2113-2131.
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PDS5A and PDS5B in Cohesin Function and Human Disease. Int J Mol Sci. 2021 May 30; 22(11).
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Cohesin subunit RAD21: From biology to disease. Gene. 2020 Oct 20; 758:144966.
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Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. Mol Genet Genomic Med. 2020 08; 8(8):e1318.
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 05; 182(5):1143-1151.
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Mol Genet Genomic Med. 2019 03; 7(3):e549.
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Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158.
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.