{"orpha":2462,"name":"Shprintzen-Goldberg syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Marfanoid craniosynostosis syndrome","SGS"],"definition":"A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2462/","orphanet_url":"https://www.orpha.net/en/disease/detail/2462","names":{"fr":{"name":"Syndrome de Shprintzen-Goldberg","synonyms":["Syndrome d'habitus marfanoïde-craniosynostose"],"definition":"Maladie génétique rare caractérisée par une craniosynostose, des anomalies craniofaciales et squelettiques, un habitus marfanoïde, des anomalies cardiaques et neurologiques, ainsi que par une déficience intellectuelle."},"de":{"name":"Shprintzen-Goldberg-Syndrom","synonyms":["Marfan-ähnliches Kraniosynostose-Syndrom","SGS"],"definition":"Eine seltene genetische Störung, die durch Kraniosynostose, kraniofaziale und skelettale Anomalien, marfanoiden Habitus, kardiale Anomalien, neurologische Anomalien und Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome de Shprintzen-Goldberg","synonyms":["Síndrome marfanoide con craneosinostosis"],"definition":"Es un trastorno poco frecuente de origen genético caracterizado por craneosinostosis, anomalías craneofaciales y esqueléticas, hábito marfanoide, anomalías cardíacas y neurológicas, y discapacidad intelectual."},"it":{"name":"Sindrome di Shprintzen-Goldberg","synonyms":["Sindrome marfanoide da craniosinostosi"],"definition":"La sindrome di Shprintzen-Goldberg (SGS) è una malattia genetica molto rara, caratterizzata da craniosinostosi, anomalie craniofacciali e scheletriche, habitus marfanoide, cardiopatie, anomalie neurologiche e disabilità intellettiva."},"nl":{"name":"Syndroom van Shprintzen-Goldberg","synonyms":["Marfanoïde craniosynostose-syndroom","SGS"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door craniosynostose, craniofaciale en skeletale afwijkingen, marfanoïde habitus, hartanomalieën, neurologische afwijkingen, en intellectuele achterstand."},"pt":{"name":"Síndrome Shprintzen-Goldberg","synonyms":["SGS","Síndrome craniossinostose-hábito marfanoide"]},"pl":{"name":"Zespół Shprintzena i Goldberga","synonyms":["SGS","Zespół kranioosynostozy marfanoidalnej"],"definition":"Rzadka, genetycznie uwarunkowana choroba charakteryzująca się kraniosynostozą, nieprawidłowościami w czaszkowo-twarzowymi oraz kostnymi, wyglądem marfanoidalnym, wadami serca, nieprawidłowościami neurologicznymi i niepełnosprawnością intelektualną."},"cs":{"name":"Shprintzenův-Goldbergův syndrom","synonyms":["Syndrom marfanoidní kraniosynostózy","SGS","Shprintzen-Goldbergův syndrom"]},"uk":{"name":"Синдром Шпрінцена-Гольдберга","synonyms":["Синдром марфаноїдного краніосиностозу","SGS"],"definition":"A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability."},"zh":{"name":"Shprintzen-Goldberg综合症","synonyms":["马方综合征的颅缝早闭综合征"]},"tr":{"name":"Shprintzen-Goldberg sendromu","synonyms":["SGS","Marfanoid kraniyosinostozis sendromu"]}},"xrefs":[{"source":"OMIM","code":"182212","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1006932112"},{"source":"MONDO","code":"0008426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537328","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1321551","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4861","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082234","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2352,"name":"Kozlowski-Brown-Hardwick syndrome","status":"inactive"}],"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":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301454[PMID]_8563763[PMID]_9338588[PMID]_16333834[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]},{"symbol":"SKI","name":"SKI proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23023332[PMID]","hgnc":"10896","ensembl":"ENSG00000157933","omim":"164780","loci":["1p36.33-p36.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"20301454[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301454[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-05","source":null,"terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}