{"orpha":2561,"name":"Pyramidal molars-abnormal upper lip syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Ackerman fused molar roots syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2561/","orphanet_url":"https://www.orpha.net/en/disease/detail/2561","names":{"fr":{"name":"Syndrome de molaires pyramidales-lèvre supérieure anormale","synonyms":["Syndrome de molaires avec racines fusionnées d'Ackerman"],"definition":"Anomalies congénitales multiples / syndrome dysmorphique rare caractérisé par l'association inconstante d'anomalies dentaires, cutanées, oculaires et osseuses, dont des molaires aux racines pyramidales et fusionnées, un taurodontisme, une lèvre supérieure anormale sans arc de Cupidon et un philtrum large et épais, un glaucome juvénile, une syndactylie et une clinodactylie. Aucun cas n'a été décrit dans la littérature depuis 1973."},"de":{"name":"Pyramidale Molare-Oberlippenanomalie-Syndrom","synonyms":["Fusionierte Molarwurzel-Syndrom Ackerman"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine variable Kombination von Zahn-, Haut-, Augen- und Knochenanomalien gekennzeichnet ist, darunter pyramidale und fusionierte Molarenwurzeln, Taurodontismus, eine abnorme Oberlippe ohne Amorbogen und ein verdicktes und breites Philtrum, ein juveniles Glaukom, Syndaktylie und Klinodaktylie. Seit 1973 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de molares piramidales-labio superior anómalo","synonyms":["Síndrome de raíz molar fusionada de Ackerman"],"definition":"Es un síndrome dismórfico/con anomalías congénitas múltiples poco frecuente caracterizado por una combinación variable de anomalías dentales, cutáneas, oculares y óseas, que incluye raíces molares fusionadas y de forma piramidal, taurodontismo, labio superior anómalo sin arco de cupido y filtrum engrosado y amplio, glaucoma juvenil, sindactilia y clinodactilia. No ha habido más descripciones en la literatura desde 1973."},"it":{"name":"Sindrome molari piramidali-anomalie del labbro superiore","synonyms":["Molare piramidale - glaucoma - anomalia del labbro superiore"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da anomalie dei denti, della cute, degli occhi e dello scheletro, comprese le radici dei molari piramidali e fuse, il taurodontismo, le anomalie del labbro superiore in assenza dell'arco di cupido, il filtro spesso e largo, il glaucoma giovanile, la sindattilia e la clinodattilia. Non sono stati descritti nuovi casi dopo il 1973."},"nl":{"name":"Piramidale molaren - abnormale bovenlip-syndroom","synonyms":["Ackerman gefuseerde kieswortels-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door een variabele combinatie van anomalieen van gebit, huid, ogen en botten, waaronder molaren met piramidevormige en gefuseerde wortels, taurodontie, abnormale bovenlip zonder cupidoboog en met een verdikt en breed filtrum, juveniel glaucoom, syndactylie, en clinodactylie. Sinds 1973 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome molar piramidal-anomalia do lábio superior","synonyms":["Síndrome raízes molares fundidas Ackerman"]},"pl":{"name":"Zespół Ackermana","synonyms":["Pyramidal molar - jaskra - nieprawidłowa warga górna"]},"cs":{"name":"Ackermanův syndrom","synonyms":["Syndrom zahrnující pyramidální molární glaukom a abnormální horní ret"]},"uk":{"name":"Синдром пірамідальних молярів-аномальної верхньої губи","synonyms":["Синдром зрощених коренів молярів Аккермана"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973."},"zh":{"name":"锥状磨牙-上唇畸形综合征","synonyms":["Ackerman磨牙牙根融合综合征"]},"tr":{"name":"Piramidal molarlar-anormal üst dudak sendromu","synonyms":["Ackerman kaynaşmış molar kök sendromu"]}},"xrefs":[{"source":"OMIM","code":"200970","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008706","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538170","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860167","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"469","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"4349385[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4349385[PMID]"}],"phenotypes":null}