{"orpha":373,"name":"Simpson-Golabi-Behmel syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DGSX","Golabi-Rosen syndrome","SDYS","SGBS","SGBS1","Simpson dysmorphia syndrome","Simpson-Golabi-Behmel syndrome type 1","X-linked dysplasia gigantism syndrome"],"definition":"A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-373/","orphanet_url":"https://www.orpha.net/en/disease/detail/373","names":{"fr":{"name":"Syndrome de Simpson-Golabi-Behmel","synonyms":["DGX","Dysmorphie de Simpson","SGBS","SGBS1","Syndrome de Golabi-Rosen","Syndrome de Simpson-Golabi-Behmel type 1","Syndrome de dysplasie-gigantisme lié à l'X"],"definition":"Syndrome rare d'anomalies congénitales multiples liées au chromosome X, caractérisé par une avance de croissance globale pré- et postnatale, une dysmorphie faciale et des malformations congénitales inconstantes, une organomégalie et un risque accru de tumeur."},"de":{"name":"Simpson-Golabi-Behmel-Syndrom","synonyms":["Dysplasie-Gigantismus-Syndrom, X-chromosomales (DGSX)","Golabi-Rosen-Syndrom","SGBS","Simpson-Dysmorphie-Syndrom","Simpson-Golabi-Behmel-Syndrom Typ 1 (SGBS1)"],"definition":"Ein seltenes X-chromosomales Syndrom mit multiplen kongenitalen Anomalien, gekennzeichnet durch prä- und postnatales Grosswuchssyndrom, ausgeprägte kraniofaziale Merkmale, variable kongenitale Fehlbildungen, Organomegalie und ein erhöhtes Tumorrisiko."},"es":{"name":"Síndrome de Simpson-Golabi-Behmel","synonyms":["DGSX","SDYS","SGBS1","Síndrome de Golabi-Rosen","Síndrome de Simpson-Golabi-Behmel tipo 1","Síndrome de dismorfía de Simpson","Síndrome de displasia gigantismo ligado al cromosoma X"],"definition":"Es un síndrome poco frecuente con múltiples anomalías congénitas ligado al cromosoma X y caracterizado por sobrecrecimiento pre- y postnatal, rasgos craneofaciales distintivos, malformaciones congénitas variables, organomegalia y un riesgo incrementado de desarrollo de tumores."},"it":{"name":"Sindrome di Simpson-Golabi-Behmel","synonyms":["DGSX","SDYS","SGBS","Sindrome di Golabi-Rosen","Sindrome di Simpson-Golabi-Behmel, tipo 1","Sindrome dismorfica di Simpson","Sindrome displasia-gigantismo, legata all'X"],"definition":"La sindrome di Simpson-Golabi-Behmel (SGBS) è una malattia rara da anomalie congenite multiple legata all'X, caratterizzata da iperaccrescimento pre- e postnatale, dismorfismi craniofacciali tipici, malformazioni congenite variabili, organomegalia e predisposizione ai tumori."},"nl":{"name":"Syndroom van Simpson-Golabi-Behmel","synonyms":["SGBS","SGBS1","Syndroom van Golabi-Rosen","Syndroom van Simpson-Golabi-Behmel type 1","X-gebonden dysplasie - gigantisme-syndroom","DGSX","Dysmorfiesyndroom van Simpson","SDYS"],"definition":"Een zeldzaam X-gebonden syndroom met multipele congenitale anomalieën, gekarakteriseerd door pre- en postnatale overgroei, typische craniofaciale kenmerken, variabele congenitale malformaties, organomegalie en een verhoogd risico op tumoren."},"pt":{"name":"Síndrome Simpson-Golabi-Behmel","synonyms":["SGBS","SGBS1","Síndrome Bulldog","Síndrome Golabi-Rosen","Síndrome Simpson-Golabi-Behmel tipo 1","Síndrome de displasia-gigantismo ligado ao X","Síndrome dismorfia de Simpson"]},"pl":{"name":"Zespół Simpson, Golabi i Behmel","synonyms":["Zespół dysmorfii Simson","DGSX","SDYS","SGBS","SGBS1","Zespół dysplazja sprzężona z chromosomem X - gigantyzm","Zespół Golabi i Rosena"]},"cs":{"name":"Simpsonův-Golabiho-Behmelové syndrom","synonyms":["DGSX","SDYS","SGBS","SGBS1","Syndrom Simpsonova dysmorfismu","Golabiho-Rosenův syndrom","Simpsonův-Golabiho-Behmelové syndrom, typ 1","Simpson-Golabi-Behmelové syndrom","Golabi-Rosenův syndrom","Simpson-Golabi-Behmelův syndrom, typ 1"]},"uk":{"name":"Синдром Сімпсона-Голабі-Бехмеля","synonyms":["DGSX","Синдром Голабі-Розена","SDYS","SGBS","SGBS1","Синдром дисморфії Сімпсона","Синдром Сімпсона-Голабі-Бехмеля, тип 1","Синдром гігантизму при Х-зчепленій дисплазії"],"definition":"A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk."},"zh":{"name":"Simpson-Golabi-Behmel综合征","synonyms":["X连锁发育不良巨人症综合征"]},"tr":{"name":"Simpson-Golabi-Behmel sendromu","synonyms":["DGSX","SDYS","SGBS","SGBS1","Golabi-Rosen sendromu","Simpson dismorfi sendromu","Simpson-Golabi-Behmel sendromu tip 1","X'e bağlı displazi devlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"312870","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"181316558"},{"source":"MONDO","code":"0010731","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4317043","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7649","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":156207,"name":"Macroglossia","classifications":[147,156,209]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"GPC4","name":"glypican 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21082656[PMID]_20301398[PMID]","hgnc":"4452","ensembl":"ENSG00000076716","omim":"300168","loci":["Xq26.2"]},{"symbol":"GPC3","name":"glypican 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10814714[PMID]_20301398[PMID]","hgnc":"4451","ensembl":"ENSG00000147257","omim":"300037","loci":["Xq26.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"25238977[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent 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(29-5%)","criteria":null},{"hpo":"HP:0004510","label":"Pancreatic islet-cell hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001748","label":"Polysplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}