"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.
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Year | Major Topic | Minor Topic | Total |
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2006 | 1 | 0 | 1 |
2017 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2019 | 2 | 0 | 2 |
2020 | 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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Severe cortical damage associated with COVID-19 case report. Seizure. 2021 Jan; 84:66-68.
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Successful guselkumab treatment in a psoriatic patient affected with Cornelia de Lange syndrome, and prosecution during the COVID-19 pandemic. Dermatol Ther. 2020 Jul; 33(4):e13433.
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First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia. J Clin Pathol. 2019 Aug; 72(8):558-561.
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Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation. Hum Mol Genet. 2019 01 01; 28(1):64-73.
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Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life. Int J Mol Sci. 2018 Feb 01; 19(2).
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Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts. Birth Defects Res. 2017 Oct 02; 109(16):1268-1276.
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[Auditory function in children with Brachmann-de Lange syndrom]. Otolaryngol Pol. 2006; 60(4):577-81.