{"orpha":1488,"name":"Cooper-Jabs syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Aural atresia-multiple congenital anomalies-intellectual disability syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1488/","orphanet_url":"https://www.orpha.net/en/disease/detail/1488","names":{"fr":{"name":"Syndrome de Cooper-Jabs","synonyms":["Syndrome d'atrésie auriculaire-malformations congénitales multiples-déficience intellectuelle"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une atrésie du canal auditif (entraînant une surdité de transmission modérée) associée à une déficience intellectuelle, une communication septale interventriculaire, une hernie ombilicale, une antéposition de l'anus, diverses anomalies squelettiques (un léger pied-bot, les cinquièmes doigts longs, un pouce placé de manière proximale), et une dysmorphie craniofaciale qui se traduit par une brachycéphalie, un front proéminent, un occiput aplati, une hypoplasie du milieu du visage, des narines antéversées et des oreilles basses et inclinées vers l'arrière avec une hélice anormalement repliée. Aucun cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Cooper-Jabs-Syndrom","synonyms":["Auralatresie-multiple kongenitale Fehlbildungen-Intelligenzminderung-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom, das durch eine Atresie der Gehörgänge (die zu einer mäßigen Schallleitungsschwerhörigkeit führt) in Verbindung mit Intelligenzminderung, Ventrikelseptumdefekt, Nabelhernie und einem nach vorne verlagerten Anus gekennzeichnet ist. Weitere Merkmale sind verschiedene Skelettanomalien (z. B. leichter Klumpfuß, lange fünfte Finger, proximal gestellte Daumen) und kraniofaziale Dysmorphien wie Brachyzephalie, prominente Stirn, abgeflachtes Hinterhaupt, Mittelgesichtshypoplasie, antevertierte Nasenlöcher und tief angesetzte, nach hinten gedrehte Ohren mit überlappender superiorer Helix. Seit 1987 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Cooper-Jabs","synonyms":["Síndrome de atresia aural-anomalías congénitas múltiples-discapacidad intelectual"],"definition":"Es un síndrome dismórfico/por múltiples anomalías congénitas poco frecuente caracterizado por atresia del conducto auditivo (que resulta en pérdida auditiva conductiva moderada) asociada a discapacidad intelectual, comunicación interventricular, hernia umbilical, ano desplazado anteriormente, diversas anomalías esqueléticas (tales como pie zambo leve, quinto dedo de la mano largo, pulgares situados proximalmente) y dismorfia craneofacial que incluye braquicefalia, frente prominente, occipucio plano, hipoplasia mediofacial, narinas antevertidas y orejas de implantación baja rotadas posteriormente con un hélix superior solapante. No ha habido más casos descritos en la literatura desde 1987."},"it":{"name":"Sindrome di Cooper-Jabs","synonyms":["Sindrome atresia auricolare-anomalie congenite multiple-disabitlià intellettiva"],"definition":"È una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da atresia del canale auricolare (con conseguente sordità moderata di conduzione), associata a disabilità intellettiva, difetto del setto interventricolare, ernia ombelicale, ano anteriorizzato, anomalie scheletriche (piedi lievemente torti, quinto dito della mano allungato, pollici ad impianto prossimale) e dismorfismi craniofacciali (brachicefalia, fronte prominente, appiattimento dell'occipite, ipoplasia medio-facciale, narici anteverse, orecchie a basso impianto ruotate posteriormente con elice superiore sovrapposto). Non sono stati descritti nuovi casi dopo il 1987."},"nl":{"name":"Syndroom van Cooper-Jabs","synonyms":["Gehoorgangatresie - meervoudige congenitale anomalieën - intellectuele achterstand-syndroom"],"definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door atresie van de gehoorgang (met matig conductief gehoorverlies tot gevolg), geassocieerd met intellectuele achterstand, ventrikelseptumdefect, hernia umbilicalis (navelbreuk), anterieur misplaatste anus, verschillende skeletanomalieën (zoals milde klompvoet, lange vijfde vingers, proximaal geplaatste duimen), en craniofaciale dysmorfie met onder meer brachycefalie, prominent voorhoofd, afgeplat achterhoofd, hypoplasie van het middengezicht, anteversie van de neusgaten, en laagstaande en naar achteren gedraaide oren met bovenaan overlappende helix. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Cooper-Jabs","synonyms":["Atrésia aural-anomalias congénitas múltiplas-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół Coopera i Jabsa","synonyms":["Atrezja ucha - mnogie wady wrodzone - opóźnienie w rozwoju"]},"cs":{"name":"Cooperův-Jabsův syndrom","synonyms":["Syndrom zahrnující aurální atrézii, mnohočetné vrozené anomálie a mentální retardaci","Cooper-Jabsův syndrom"]},"uk":{"name":"Синдром Купера-Джебса","synonyms":["Синдром атрезії слухового нерва - множинних вроджених аномалій - інтелектуальної недостатності"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987."},"zh":{"name":"Cooper-Jabs综合征","synonyms":["耳道闭锁-多发性先天性异常-智力障碍综合征"]},"tr":{"name":"Cooper-Jabs sendromu","synonyms":["Kulak atrezisi-çoklu doğumsal anomaliler-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"209770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303864","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":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3572627[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3572627[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","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}]}}