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Descriptor English: Silver-Russell Syndrome
Descriptor Spanish: Síndrome de Silver-Russell
Descriptor síndrome de Silver-Russell
Entry term(s) enanismo de Silver-Russell
Scope note: Trastorno genética y clínicamente heterogéneo caracterizado por bajo peso al nacer, retraso posnatal del crecimiento, dismorfismo facial, asimetría corporal bilateral y clinodactilia del los quintos dedos. En el síndrome están implicadas alteraciones de la IMPRONTA GENÓMICA. En un subgrupo de pacientes con síndrome de Silver-Russell está implicada la hipometilación del locus IGF2/H19 próximo a un centro de impronta del cromosoma 11p15. Por otra parte, la hipermetilación de la misma región cromosómica, puede causar el SÍNDROME DE BECKWITH-WIEDEMANN. Se ha visto que en su etiología interviene la DISOMÍA UNIPARENTAL materna del cromosoma 7.
Descriptor Portuguese: Síndrome de Silver-Russell
Descriptor French: Syndrome de Silver-Russell
Entry term(s): Nanisme de Silver-Russell
Syndrome de Silver
Tree number(s): C05.660.207.925
C16.131.077.855
C16.131.260.870
C16.320.180.870
C16.320.240.937
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D056730
Scope note: Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
Allowable Qualifiers: BL sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
Related: Syndrome de Beckwith-Wiedemann MeSH
DeCS ID: 53498
Unique ID: D056730
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2013/07/08
Syndrome de Silver-Russell - Preferred
Concept UI M0528886
Preferred term Syndrome de Silver-Russell
Entry term(s) Nanisme de Silver-Russell
Syndrome de Silver



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