SILVER-RUSSELL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: RUSSELL-SILVER SYNDROME
SILVER-RUSSELL DWARFISM
RSS
SRS
Number of Symptoms 30
OrphanetNr:
OMIM Id: 180860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010957) Congenital posterior urethral valve 9 / 7739
2
(HPO:0000047) Hypospadias 250 / 7739
3
(HPO:0002667) Nephroblastoma 30 / 7739
4
(HPO:0100617) Testicular seminoma 3 / 7739
5
(HPO:0000347) Micrognathia 426 / 7739
6
(HPO:0000270) Delayed cranial suture closure 33 / 7739
7
(HPO:0002007) Frontal bossing 366 / 7739
8
(HPO:0002714) Downturned corners of mouth 98 / 7739
9
(HPO:0005461) Craniofacial disproportion 2 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0003162) Fasting hypoglycemia 8 / 7739
12
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
13
(HPO:0002750) Delayed skeletal maturation 250 / 7739
14
(HPO:0001402) Hepatocellular carcinoma 25 / 7739
15
(HPO:0001511) Intrauterine growth retardation 358 / 7739
16
(HPO:0000957) Cafe-au-lait spot 84 / 7739
17
(OMIM) Average female adult height, 138 cm 1 / 7739
18
(OMIM) Partial or total asymmetry 1 / 7739
19
(OMIM) Blue sclera in infancy 1 / 7739
20
(OMIM) Cardiac defects 5 / 7739
21
(OMIM) Syndactyly of 2nd-3rd toes 1 / 7739
22
(OMIM) Average adult male height, 149.5 cm 1 / 7739
23
(OMIM) Lateral asymmetry 1 / 7739
24
(OMIM) Small, triangular face 1 / 7739
25
(OMIM) Asymmetry of arms and/or legs 1 / 7739
26
(MedDRA:10060042) Head circumference normal 5 / 7739
27
(OMIM) Pseudohydrocephalic appearance 1 / 7739
28
(OMIM) Fifth digit middle or distal phalangeal hypoplasia 1 / 7739
29
(OMIM) Growth hormone deficiency in some individuals 1 / 7739
30
(MedDRA:10011318) Craniopharyngioma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic ...
Clinical Description OMIM Silver-Russell syndrome (SRS) was reported independently by Silver et al. (1953) and Russell (1954). Silver et al. (1953) described 2 unrelated children with congenital hemihypertrophy, low birth weight, short stature, and elevated urinary gonadotropins. Russell (1954) described 5 ...
Genotype-Phenotype Correlations OMIM Binder et al. (2008) compared the genotype in 44 patients with SRS with the endocrine phenotype. Epimutations at 11p15 were found in 19 of the 44, UPD7 in 5, and small structural aberrations of the short arm of ...
Molecular genetics OMIM Abu-Amero et al. (2008) provided a review of the complex genetic etiology of Silver-Russell syndrome, which primarily involves chromosomes 7 and 11.

- Genes on Chromosome 7

In the mouse, and presumably the human ...

Diagnosis GeneReviews The clinical diagnosis of RSS depends on the presence of intrauterine growth retardation accompanied by postnatal growth deficiency [Silver et al 1953, Russell 1954, Price et al 1999]. No signs or features are pathognomonic for RSS. ...
Clinical Description GeneReviews The most critical diagnostic clinical features [Price et al 1999]:...
Genotype-Phenotype Correlations GeneReviews Using methylation-sensitive restriction enzymes HpaII or NotI to measure the degree of methylation of H19, Bruce et al [2009] developed a scale of extreme H19 hypomethylation, moderate H19 hypomethylation, normal H19 methylation, and maternal UPD7 (normal H19 methylation). They determined that children with RSS with extreme H19 hypomethylation (i.e., ≤ -6 SD or <9% methylation) were more likely to have more severe skeletal manifestations (including radiohumeral dislocation, syndactyly, greater limb asymmetry, and scoliosis) than children with RSS with moderate hypomethylation and those with maternal UPD7. ...
Differential Diagnosis GeneReviews Intrauterine growth retardation and short stature. The differential diagnosis of Russell-Silver syndrome (RSS) includes any condition that can cause intrauterine growth retardation and short stature. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with Russell-Silver syndrome (RSS), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....