Silver-Russell syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Silver-Russell dwarfism |
| Number of Symptoms | 37 |
| OrphanetNr: | 813 |
| OMIM Id: |
180860
312780 |
| ICD-10: |
Q87.1 |
| UMLs: |
C0175693 |
| MeSH: |
D056730 |
| MedDRA: |
10062282 |
| Snomed: |
15069006 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.8 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic malformation syndrome with short stature
-Rare genetic disease Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare genetic disease Malformation syndrome with short stature -Rare developmental defect during embryogenesis Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare developmental defect during embryogenesis Polymalformative genetic syndrome with increased risk of developing cancer -Rare genetic disease -Rare oncologic disease |
Symptom Information:
|
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(HPO:0000069) | Abnormality of the ureter | 47 / 7739 | ||||
|
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(HPO:0010957) | Congenital posterior urethral valve | 9 / 7739 | ||||
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(HPO:0002667) | Nephroblastoma | 30 / 7739 | ||||
|
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(HPO:0000047) | Hypospadias | 250 / 7739 | ||||
|
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(HPO:0000079) | Abnormality of the urinary system | Occasional [Orphanet] | 88 / 7739 | |||
|
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(HPO:0100617) | Testicular seminoma | 3 / 7739 | ||||
|
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(HPO:0000270) | Delayed cranial suture closure | 33 / 7739 | ||||
|
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
|
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(HPO:0005461) | Craniofacial disproportion | 2 / 7739 | ||||
|
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(HPO:0000233) | Thin vermilion border | Frequent [Orphanet] | 124 / 7739 | |||
|
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(HPO:0000325) | Triangular face | Very frequent [Orphanet] | 91 / 7739 | |||
|
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
|
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(HPO:0002714) | Downturned corners of mouth | Very frequent [Orphanet] | 98 / 7739 | |||
|
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(HPO:0000592) | Blue sclerae | Very frequent [Orphanet] | 85 / 7739 | |||
|
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
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(HPO:0003162) | Fasting hypoglycemia | 8 / 7739 | ||||
|
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(HPO:0000824) | Growth hormone deficiency | 56 / 7739 | ||||
|
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(HPO:0000826) | Precocious puberty | Occasional [Orphanet] | 42 / 7739 | |||
|
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
|
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(HPO:0001760) | Abnormality of the foot | 96 / 7739 | ||||
|
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(HPO:0004227) | Short distal phalanx of the 5th finger | 4 / 7739 | ||||
|
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(HPO:0004220) | Short middle phalanx of the 5th finger | 17 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0001402) | Hepatocellular carcinoma | 25 / 7739 | ||||
|
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0100555) | Asymmetric growth | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
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(HPO:0001518) | Small for gestational age | 107 / 7739 | ||||
|
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(HPO:0004326) | Cachexia | Very frequent [Orphanet] | 71 / 7739 | |||
|
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
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(HPO:0000957) | Cafe-au-lait spot | 84 / 7739 | ||||
|
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(HPO:0001626) | Abnormality of the cardiovascular system | Occasional [Orphanet] | 73 / 7739 | |||
|
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(HPO:0001943) | Hypoglycemia | Frequent [Orphanet] | 131 / 7739 | |||
|
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
|
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(HPO:0030062) | Craniopharyngioma | 1 / 7739 | ||||
|
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(HPO:0003745) | Sporadic | 131 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|