{"orpha":798,"name":"Schinzel-Giedion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SGS"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-798/","orphanet_url":"https://www.orpha.net/en/disease/detail/798","names":{"fr":{"name":"Syndrome de Schinzel-Giedion","synonyms":["SGS"],"definition":"Le syndrome de Schinzel-Giedion (SGS) est un syndrome de dysplasie ectodermique principalement caractérisé par une dysmorphie faciale distinctive, une hydronéphrose, un retard de développement sévère, des malformations squelettiques caractéristiques, ainsi que des anomalies cardiaques et des voies génitales."},"de":{"name":"Schinzel-Giedion-Syndrom","synonyms":["SGS"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine ausgeprägte Gesichtsdysmorphie, Hydronephrose, schwere Entwicklungsverzögerung, typische Fehlbildungen des Skeletts sowie genitale und kardiale Anomalien gekennzeichnet ist."},"es":{"name":"Síndrome de Schinzel-Giedion","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas caracterizado por una dismorfia facial característica, hidronefrosis, un acusado retraso del desarrollo, malformaciones esqueléticas típicas y anomalías genitales y cardíacas."},"it":{"name":"Sindrome di Schinzel-Giedion","synonyms":["SGS"],"definition":"La sindrome di Schinzel-Giedion (SGS) è una sindrome da displasia ectodermica caratterizzata essenzialmente da dismorfismi facciali caratteristici, idronefrosi, grave ritardo dello sviluppo, malformazioni scheletriche tipiche, anomalie genitali e cardiopatie."},"nl":{"name":"Syndroom van Schinzel-Giedion","synonyms":["SGS"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door een typische faciale dysmorfie, hydronefrose, ernstige ontwikkelingsachterstand, typische malformaties van skelet, en anomalieën van genitaliën en hart."},"pt":{"name":"Síndrome Schintzel-Giedion","synonyms":["SGS"]},"pl":{"name":"Zespół Schinzela i Giediona","synonyms":["SGS"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny charakteryzujący się specyficzną dysmorfią twarzy, wodonerczem, znacznym opóźnieniem rozwoju, typowymi wadami układu szkieletowego oraz narządów płciowych i serca."},"cs":{"name":"Schinzelův-Giedionův syndrom","synonyms":["SGS","Syndrom Schinzel-Giedion","Schinzel-Giedionův syndrom"]},"uk":{"name":"Синдром Шинцеля-Гедіона","synonyms":["SGS"],"definition":"Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies."},"zh":{"name":"Schinzel-Giedion综合征","synonyms":["SGS"]},"tr":{"name":"Schinzel-Giedion sendromu","synonyms":["SGS"]}},"xrefs":[{"source":"OMIM","code":"269150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1542318431"},{"source":"MONDO","code":"0010010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536632","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265227","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"117","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063540","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3118,"name":"Rudiger 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":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":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"SETBP1","name":"SET binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20436468[PMID]_21371013[PMID]","hgnc":"15573","ensembl":"ENSG00000152217","omim":"611060","loci":["18q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18398855[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":46.0,"area":"Worldwide","status":"Validated","source":"18398855[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-15","source":"28346496[PMID]_25663181[PMID]_25028416[PMID]_21371013[PMID]_18398855[PMID]","terms":[{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000329","label":"Facial hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004554","label":"Generalized hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000375","label":"Abnormal cochlea morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008628","label":"Abnormality of the stapes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000522","label":"Alacrima","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000452","label":"Choanal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002190","label":"Choroid plexus cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003173","label":"Hypoplastic pubic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008610","label":"Infantile sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045005","label":"Neural tube defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002694","label":"Sclerosis of skull base","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010034","label":"Short 1st metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009792","label":"Teratoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002888","label":"Ependymoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005349","label":"Hypoplasia of the epiglottis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012324","label":"Myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030736","label":"Sacrococcygeal teratoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025259","label":"Stiff elbow","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Very rare (<4-1%)","criteria":null}]}}