{"orpha":813,"name":"Silver-Russell syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Silver-Russell dwarfism"],"definition":"A rare imprinting disorder, characterized by fetal growth restriction with no catch-up associated with feeding anomalies and dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-813/","orphanet_url":"https://www.orpha.net/en/disease/detail/813","names":{"fr":{"name":"Syndrome de Silver-Russell","definition":"Maladie rare liée à des anomalies de l'empreinte génétique, caractérisée par un retard de croissance foetale qui ne peut pas être rattrapé, associé à des difficultés à s'alimenter et à une dysmorphie faciale particulière."},"de":{"name":"Silver-Russell-Syndrom","definition":"Eine seltene Imprintingerkrankung, die durch eine Wachstumsverzögerung des Fötus ohne Aufholwachstum in Verbindung mit Ernährungsstörungen und dysmorphen Merkmalen gekennzeichnet ist."},"es":{"name":"Síndrome de Silver-Russell","synonyms":["Enanismo de Silver-Russell"],"definition":"Es un trastorno de impronta génica poco frecuente caracterizado por restricción del crecimiento fetal que persiste postnatalmente asociado a trastornos de la alimentación y rasgos dismórficos leves."},"it":{"name":"Sindrome di Silver-Russell","synonyms":["Nanismo di Silver-Russell"]},"nl":{"name":"Syndroom van Silver-Russell","synonyms":["Dwerggroei, Silver-Russell-type"],"definition":"Een zeldzame imprintingsstoornis, gekenmerkt door foetale groeirestrictie zonder inhaalbeweging geassocieerd met voedingsproblemen en dysmorfe kenmerken."},"pt":{"name":"Síndrome Silver-Russell","synonyms":["Nanismo de Silver-Russell"]},"pl":{"name":"Zespół Silvera i Russella","synonyms":["Karłowatość Silvera i Russella"],"definition":"Zespół Silvera-Russella charakteryzuje się opóźnieniem wzrostu rozpoczynającym się w okresie prenatalnym, z charakterystycznymi rysami twarzy i asymetrią kończyn."},"cs":{"name":"Silverův-Russellův syndrom","synonyms":["Silverův-Rusellův nanismus","Silver-Russellův syndrom","Silver-Rusellův nanismus"]},"uk":{"name":"Синдром Сільвера-Рассела","synonyms":["Карликовість Сільвера-Рассела"],"definition":"Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry."},"zh":{"name":"Silver-Russell综合征","synonyms":["Silver-Russell侏儒症"]},"tr":{"name":"Silver-Russell sendromu","synonyms":["Silver-Russell cücelik"]}},"xrefs":[{"source":"OMIM","code":"180860","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"312780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616489","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"735297495"},{"source":"MONDO","code":"0008394","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175693","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4870","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062282","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]}],"children":[{"orpha":231144,"name":"Silver-Russell syndrome due to 11p15 microduplication","type":"Etiological subtype"},{"orpha":231137,"name":"Silver-Russell syndrome due to 7p11.2p13 microduplication","type":"Etiological subtype"},{"orpha":397590,"name":"Silver-Russell syndrome due to a point mutation","type":"Etiological subtype"},{"orpha":231140,"name":"Silver-Russell syndrome due to an imprinting defect of 11p15","type":"Etiological subtype"},{"orpha":231147,"name":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11","type":"Etiological subtype"},{"orpha":96182,"name":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GRB10","name":"growth factor receptor bound protein 10","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"31100449[PMID]","hgnc":"4564","ensembl":"ENSG00000106070","omim":"601523","loci":["7p12.1"],"via":{"orpha":96182,"name":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"}},{"symbol":"CDKN1C","name":"cyclin dependent kinase inhibitor 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24065356[PMID]","hgnc":"1786","ensembl":"ENSG00000129757","omim":"600856","loci":["11p15.4"],"via":{"orpha":397590,"name":"Silver-Russell syndrome due to a point mutation"}},{"symbol":"HMGA2","name":"high mobility group AT-hook 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29655892[PMID]","hgnc":"5009","ensembl":"ENSG00000149948","omim":"600698","loci":["12q14.3"],"via":{"orpha":397590,"name":"Silver-Russell syndrome due to a point mutation"}},{"symbol":"IGF2","name":"insulin like growth factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26154720[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"],"via":{"orpha":397590,"name":"Silver-Russell syndrome due to a point mutation"}},{"symbol":"PLAG1","name":"PLAG1 zinc finger","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28796236[PMID]","hgnc":"9045","ensembl":"ENSG00000181690","omim":"603026","loci":["8q12.1"],"via":{"orpha":397590,"name":"Silver-Russell syndrome due to a point mutation"}},{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"19675668[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"],"via":{"orpha":231140,"name":"Silver-Russell syndrome due to an imprinting defect of 11p15"}},{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"28592837[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"],"via":{"orpha":231144,"name":"Silver-Russell syndrome due to 11p15 microduplication"}},{"symbol":"IGF2","name":"insulin like growth factor 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"33236057[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"],"via":{"orpha":231140,"name":"Silver-Russell syndrome due to an imprinting defect of 11p15"}},{"symbol":"IGF2","name":"insulin like growth factor 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20503324[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"],"via":{"orpha":231144,"name":"Silver-Russell syndrome due to 11p15 microduplication"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":15.5,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United Kingdom","status":"Not yet validated","source":"16128241[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United Kingdom","status":"Validated","source":"16128241[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-05","source":"27585961[PMID]_25951829[PMID]_17504900[PMID]_24891339[PMID]","terms":[{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011844","label":"Abnormal appendicular skeleton morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000032","label":"Abnormality of male external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008364","label":"Abnormality of the calcaneus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010782","label":"Shoulder dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}