"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)
|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
- 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".
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Below are the most recent publications written about "De Lange Syndrome" by people in Profiles.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014 Mar 10; 537(2):279-84.
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenat Diagn. 2014 Feb; 34(2):163-7.
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.
Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. Development. 2007 Sep; 134(17):3191-201.
Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome? Am J Med Genet. 1992 Feb 01; 42(3):381-6.