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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): Dwarfism, Silver Russell
Dwarfism, Silver-Russell
Russell Silver Syndrome
Russell-Silver Syndrome
Silver Russell Dwarfism
Silver Russell Syndrome
Silver-Russell Dwarfism
Syndrome, Russell Silver
Syndrome, Silver-Russell
Tree number(s): C05.660.207.925
C16.131.077.855
C16.131.260.870
C16.320.180.870
C16.320.240.937
C16.320.447.750
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 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
Previous Indexing: Growth Disorders (1970-2009)
Public MeSH Note: 2010
History Note: 2010
Related: Beckwith-Wiedemann Syndrome 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
Silver-Russell Syndrome - Preferred
Concept UI M0528886
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.
Preferred term Silver-Russell Syndrome
Entry term(s) Dwarfism, Silver Russell
Dwarfism, Silver-Russell
Russell Silver Syndrome
Russell-Silver Syndrome
Silver Russell Dwarfism
Silver Russell Syndrome
Silver-Russell Dwarfism
Syndrome, Russell Silver
Syndrome, Silver-Russell



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