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Descriptor English: De Lange Syndrome
Descriptor Spanish: Síndrome de Cornelia de Lange
Descriptor síndrome de De Lange
Entry term(s) síndrome Brachmann de Lange
síndrome Cornelia de Lange
síndrome Cornelia de Lange de tipo 2
síndrome Cornelia de Lange de tipo 3
síndrome de Brachmann de Lange
síndrome de Cornelia de Lange
síndrome de Cornelia de Lange de tipo 2
síndrome de Cornelia de Lange de tipo 3
síndrome de De Lange de tipo 2
síndrome de De Lange de tipo 3
tipus degenerativus amstelodamensis
Scope note: Síndrome que se caracteriza por retraso del crecimiento, RETRASO MENTAL grave, talla baja, un llanto en forma de refunfuño de tono bajo, braquicefalia, orejas de implantación baja, cuello alado, boca en forma de carpa, depresión del puente nasal, cejas tupidas que se unen en la línea media, hirsutismo, y malformaciones de las manos. La afección puede ocurrir esporádicamente o estar asociada con un patrón autosómico dominante o duplicación del brazo largo del cromosoma 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
Descriptor Portuguese: Síndrome de Cornélia de Lange
Descriptor French: Syndrome de Cornelia de Lange
Entry term(s): Amstelodamensis, Typus Degenerativus
Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome
CdLS, X Linked
CdLS, X-Linked
CdLS2
CdLSs, X-Linked
Cornelia De Lange Syndrome
Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 2
Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome, X Linked
Cornelia de Lange Syndrome, X-Linked
De Lange's Syndrome
Syndrome, Brachmann-De Lange
Typus Degenerativus Amstelodamensis
X-Linked CdLS
X-Linked CdLSs
Tree number(s): C10.597.606.360.210
C16.131.077.272
C16.131.260.210
C16.320.180.210
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D003635
Scope note: 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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2000; see DE LANGE'S SYNDROME 1966-1999
History Note: 2000(1964)
Related: Intellectual Disability MeSH
DeCS ID: 3652
Unique ID: D003635
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2019/05/17
De Lange Syndrome - Preferred
Concept UI M0005689
Scope note 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)
Preferred term De Lange Syndrome
Entry term(s) Amstelodamensis, Typus Degenerativus
Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome
Cornelia De Lange Syndrome
De Lange's Syndrome
Syndrome, Brachmann-De Lange
Typus Degenerativus Amstelodamensis
Cornelia de Lange Syndrome 2 - Narrower
Concept UI M0552970
Preferred term Cornelia de Lange Syndrome 2
Entry term(s) CdLS, X Linked
CdLS, X-Linked
CdLS2
CdLSs, X-Linked
Cornelia de Lange Syndrome, X Linked
Cornelia de Lange Syndrome, X-Linked
X-Linked CdLS
X-Linked CdLSs
Cornelia de Lange Syndrome 3 - Narrower
Concept UI M0530904
Preferred term Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 1 - Narrower
Concept UI M000648998
Preferred term Cornelia de Lange Syndrome 1



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