{"orpha":2876,"name":"PHAVER syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Powell-Chandra-Saal syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2876/","orphanet_url":"https://www.orpha.net/en/disease/detail/2876","names":{"fr":{"name":"Syndrome PHAVER","synonyms":["Syndrome de Powell-Chandra-Saal"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par l'association des pterygiums des membres, des malformations cardiaques, des anomalies de l'oreille externe, des vertèbres et du rayon radial."},"de":{"name":"PHAVER-Syndrom","synonyms":["Powell-Chandra-Saal-Syndrom"],"definition":"Ein autosomal-rezessives Syndrom mit multiplen angeborenen Anomalien, das durch die Kombination von Pterygium an den Gliedmaßen, Herzanomalien, Wirbelkörperdefekten, Ohranomalien und Radialdefekten gekennzeichnet ist."},"es":{"name":"Síndrome PHAVER","synonyms":["Síndrome de Powell-Chandra-Saal"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente de herencia autosómica recesiva, caracterizado por la asociación de pterigia de las extremidades, anomalías cardíacas, defectos vertebrales, anomalías del oído y defectos radiales."},"it":{"name":"Sindrome PHAVER","synonyms":["Sindrome di Powell-Chandra-Saal"]},"nl":{"name":"PHAVER-syndroom","synonyms":["Syndroom van Powell-Chandra-Saal"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door de associatie van pterygia van ledematen, hartanomalieën, autosomaal recessieve overerving, vertebrale defecten, ooranomalieën, en radiale defecten."},"pt":{"name":"Síndrome PHAVER","synonyms":["Síndrome Powell-Chandra-Saal"]},"pl":{"name":"Zespół PHAVER","synonyms":["Zespół Powella, Chandra i Saala"]},"cs":{"name":"PHAVER syndrom","synonyms":["Powellové-Chandraové-Saalův syndrom","Powell-Chandra-Saalův syndrom"]},"uk":{"name":"Синдром PHAVER","synonyms":["Синдром Пауелла-Чандри-Саала"],"definition":"A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects."},"zh":{"name":"PHAVER综合征","synonyms":["Powell-Chandra-Saal综合征"]},"tr":{"name":"PHAVER sendromu","synonyms":["Powell-Chandra-Saal sendromu"]}},"xrefs":[{"source":"OMIM","code":"261575","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009859","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849928","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4465","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8279476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8279476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-19","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}