{"orpha":96182,"name":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["UPD(7)mat"],"definition":null,"note":"This disease is described under Silver-Russell syndrome","url":"https://raremap.alftech.space/d/ORPHA-96182/","orphanet_url":"https://www.orpha.net/en/disease/detail/96182","names":{"fr":{"name":"Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 7","synonyms":["UPD(7) maternelle","UPD(7)mat"]},"de":{"name":"Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7","synonyms":["UPD(7)mat"]},"es":{"name":"Síndrome de Silver-Russell por disomía uniparental materna del cromosoma 7","synonyms":["UPD(7)mat"]},"it":{"name":"Sindrome di Silver-Russell da disomia uniparentale materna del cromosoma 7","synonyms":["UPD(7)mat"]},"nl":{"name":"Syndroom van Silver-Russell als gevolg van maternale uniparentale disomie van chromosoom 7","synonyms":["UPD(7)mat"]},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 7"},"pl":{"name":"Zespół Silvera i Russella z powodu matczynej jednorodzicielskiej disomii chromosomu 7","synonyms":["UPD(7)mat"]},"cs":{"name":"Silverův-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 7","synonyms":["UPD(7)mat","Silver-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 7"]},"uk":{"name":"Синдром Сільвера-Рассела, зумовлений материнською уніпарентною дисомією хромосоми 7","synonyms":["UPD(7)mat"],"definition":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)."},"zh":{"name":"母源性7号染色体单亲二体所致Silver-Russell综合征","synonyms":["母源性UPD(7)"],"definition":"Silver-Russell综合征是一种由母源性7号染色体单亲二体引起的遗传性畸形综合征，具有身材矮小的特点，表现为严重的产前和产后生长迟缓、喂养困难、身体不对称、颅面畸形特征（三角形脸、相对大头畸形、额头突出、小颌畸形、口角向下）和其他异常（第五指侧弯畸形、牛奶咖啡斑、男性生殖器异常、轻度发育迟缓和/或伴有运动障碍的言语发育迟缓）。"},"tr":{"name":"Maternal uniparental kromozom 7 dizomisine bağlı Silver-Russell sendromu","synonyms":["UPD (7) mat"]}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019913","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680247","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98153,"name":"Maternal uniparental disomy syndrome","classifications":[147,156]},{"orpha":813,"name":"Silver-Russell syndrome","classifications":[147,156,181,189,202]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-19","source":"23429302[PMID]_20301499[PMID]_21954990[PMID]","terms":[{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001476","label":"Delayed closure of the anterior fontanelle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","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:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003944","label":"Narrow joint spaces of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012523","label":"Oral aversion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011094","label":"Overbite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010782","label":"Shoulder dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}