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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 3 Cornelia de Lange Syndrome 3 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".

Diseases [C]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
De Lange Syndrome [C10.597.606.643.210]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
De Lange Syndrome [C16.131.077.272]
Chromosome Disorders [C16.131.260]
De Lange Syndrome [C16.131.260.210]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
De Lange Syndrome [C16.320.180.210]

Below are MeSH descriptors whose meaning is related to "De Lange Syndrome".

Below are MeSH descriptors whose meaning is more specific than "De Lange Syndrome".

publications

Timeline | Most Recent

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.

Bar chart showing 3 publications over 3 distinct years, with a maximum of 1 publications in 2014 and 2019 and 2023

To see the data from this visualization as text, click here.

Year	Major Topic	Total
2014	1	1
2019	1	1
2023	1	1

Below are the most recent publications written about "De Lange Syndrome" by people in Profiles.

Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. 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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Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158.

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Kaiser FJ, Ansari M, Braunholz D, Concepci?n Gil-Rodr?guez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guill?n-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, P?rez-Ayt?s A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pi? J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 01; 23(11):2888-900.

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Sataloff RT, Spiegel JR, Hawkshaw M, Epstein JM, Jackson L. Cornelia de Lange syndrome. Otolaryngologic manifestations. Arch Otolaryngol Head Neck Surg. 1990 Sep; 116(9):1044-6.

View in: PubMed

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