{"orpha":3164,"name":"Omphalocele syndrome, Shprintzen-Goldberg type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3164/","orphanet_url":"https://www.orpha.net/en/disease/detail/3164","names":{"fr":{"name":"Syndrome omphalocèle de Shprintzen","definition":"Le syndrome omphalocèle de Shprintzen est un syndrome malformatif héréditaire très rare caractérisé par une omphalocèle, une scoliose, une dysmorphie modérée (fentes palpébrales obliques orientées en bas, paupières en forme de S et lèvre supérieure fine), une hypoplasie du larynx et du pharynx, et des troubles d'apprentissage."},"de":{"name":"Omphalozele-Syndrom Typ Shprintzen-Goldberg","definition":"Der Typ Shprintzen-Goldberg des Omphalozele-Syndroms ist ein sehr seltenes erbliches Fehlbildungssyndrom, gekennzeichnet durch Omphalozele, Skoliose, leichte faziale Dysmorphien (schräg abwärts verlaufende Lidspalten, S-förmige Lider, schmale Oberlippe), Pharynx- und Larynx-Hypoplasie und Lernschwierigkeiten."},"es":{"name":"Síndrome de onfalocele, tipo Shprintzen-Goldberg","definition":"El síndrome de onfalocele de Shprintzen-Goldberg es un síndrome malformativo hereditario muy poco frecuente que se caracteriza por onfalocele, escoliosis, rasgos dismórficos leves (fisuras palpebrales inclinadas hacia abajo, párpados en forma de S y labio superior delgado) hipoplasia de laringe y faringe, y dificultades en el aprendizaje."},"it":{"name":"Sindrome da onfalocele di Shprintzen","definition":"La sindrome dell'onfalocele di Shprintzen-Goldberg è una condizione malformativa ereditaria molto rara, caratterizzata da onfalocele, scoliosi, lievi dismorfismi (rime palpebrali oblique verso il basso, palpebre a forma di S e labbro superiore sottile), ipoplasia laringea e faringea e difficoltà di apprendimento."},"nl":{"name":"Omfalocele-syndroom, Shprintzen-Goldberg-type","definition":"Een zeer zeldzaam, erfelijk malformatiesyndroom, gekenmerkt door omfalocele, scoliose, milde dysmorfe kenmerken (schuin naar beneden hellende ooglidspleten, s-vormige oogleden, en dunne bovenlip), hypoplasie van larynx en farynx, en leerstoornissen."},"pt":{"name":"Síndrome de onfalocelo, tipo Shprintzen-Goldberg"},"pl":{"name":"Zespół przepukliny pępowinowej typu Shprintzena i Goldberga"},"cs":{"name":"Syndrom omfalokély, Shprintzenův-Goldbergův typ","synonyms":["Syndrom omfalokély, Shprintzen-Goldbergův typ"]},"uk":{"name":"Синдром омфалоцеле, тип Шпрінцена-Гольдберга","definition":"Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities."},"zh":{"name":"脐膨出综合征，Shprintzen-Goldberg亚型"},"tr":{"name":"Omfalosel sendromu, Shprintzen-Goldberg tipi"}},"xrefs":[{"source":"OMIM","code":"182210","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1570235082"},{"source":"MONDO","code":"0008425","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537329","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866958","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9850","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"16411191[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16411191[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005956","label":"Anteroposteriorly shortened larynx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009555","label":"Hypoplasia of the pharynx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008749","label":"Laryngeal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}