{"orpha":2180,"name":"Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ferlini-Ragno-Calzolari syndrome","Waaler-Aarskog syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2180/","orphanet_url":"https://www.orpha.net/en/disease/detail/2180","names":{"fr":{"name":"Syndrome d'hydrocéphalie-dysplasie costo-vertébrale-anomalie de Sprengel","synonyms":["Syndrome de Ferlini-Ragno-Calzolari","Syndrome de Waaler-Aarskog"],"definition":"Ce syndrome se caractérise principalement par une anomalie de Sprengel (surélévation de l'omoplate) et une hydrocéphalie. D'autres anomalies peuvent être présentes tels que retard psychomoteur, psychose, brachydactylie, dysplasie costovertébrale."},"de":{"name":"Hydrozephalus-costovertebrale Dysplasie-Sprengel-Anomalie-Syndrom","synonyms":["Ferlini-Ragno-Calzolari-Syndrom","Waaler-Aarskog-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das hauptsächlich durch eine Sprengel-Anomalie (nach kranial verlagerte Schulterblätter) und Hydrozephalus gekennzeichnet ist. Andere Anomalien wie eine globale Entwicklungsverzögerung, Psychosen, Brachydaktylie und eine Dysplasie der Rippenbögen können ebenfalls auftreten."},"es":{"name":"Síndrome de hidrocefalia-displasia costoventral-anomalía de Sprengel","synonyms":["Síndrome de Ferlini-Ragno-Calzolari","Síndrome de Waaler-Aarskog"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado principalmente por la anomalía de Sprengel (desplazamiento ascendente de la escápula) e hidrocefalia. Tambien puede asociar otras anomalías como retraso psicomotor, psicosis, braquidactilia, y displasia costovertebral."},"it":{"name":"Idrocefalo - displasia costovertebrale - anomalia di Sprengel","synonyms":["Sindrome di Ferlini-Ragno-Calzolari","Sindrome di Waaler-Aarskog"]},"nl":{"name":"Hydrocefalus - costovertebrale dysplasie - anomalie van Sprengel-syndroom","synonyms":["Syndroom van Ferlini-Ragno-Calzolari","Syndroom van Waaler-Aarskog"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, hoofdzakelijk gekenmerkt door Sprengel-anomalie (opwaartse verplaatsing van scapula) en hydrocefalie. Andere anomalieën zoals algehele ontwikkelingsachterstand, psychose, brachydactylie, en costovertebrale dysplasie kunnen ook aanwezig zijn."},"pt":{"name":"Síndrome de hidrocefalia-displasia costo-vertebral-anomalia de Sprengel","synonyms":["Síndrome Ferlini-Ragno-Calzolari","Síndrome Waaler-Aarskog"]},"pl":{"name":"Wodogłowie - dysplazja żebrowo-kręgowa - anomalia Sprengela","synonyms":["Zespół Ferliniego, Ragno i Calzolari","Zespół Waalera i Aarskoga"]},"cs":{"name":"Syndrom zahrnující hydrocefalus, kostovertebrální dysplázii a Sprengelovu deformitu","synonyms":["Ferliniové-Ragnové-Calzolariové syndrom","Waalerův-Aarskogův syndrom","Ferlini-Ragno-Calzolariové syndrom","Waaler-Aarskogův syndrom"]},"uk":{"name":"Синдром гідроцефалії-костовертебральної дисплазії-аномалії Шпренгеля","synonyms":["Синдром Ферліні-Раньо-Кальцоларі","Синдром Ваалера-Аарскога"],"definition":"A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present."},"zh":{"name":"脑积水-肋椎的发育不良-Sprengel异常综合征","synonyms":["Ferlini-Ragno-Calzolari综合征"]},"tr":{"name":"Hidrosefali-kostovertebral displazi-Sprengel anomali sendromu","synonyms":["Waaler-Aarskog sendromu","Ferlini-Ragno-Calzolari sendromu"]}},"xrefs":[{"source":"OMIM","code":"600991","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010972","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931197","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5518","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"8585573[PMID]_6893487[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8585573[PMID]_6893487[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-16","source":null,"terms":[{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}