{"orpha":2167,"name":"Holzgreve syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome","Holzgreve-Wagner-Rehder syndrome"],"definition":"Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2167/","orphanet_url":"https://www.orpha.net/en/disease/detail/2167","names":{"fr":{"name":"Syndrome de Holzgreve","synonyms":["Syndrome de Holzgreve-Wagner-Rehder","Syndrome de fente palatine-séquence de Potter-cardiopathie-polydactylie mésoaxiale"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, létal, caractérisé par une agénésie rénale avec séquence de Potter, une fente labio-palatine, des synéchies labiales, des anomalies cardiaques et squelettiques, y compris une polydactylie post-axiale. La non-fixation des intestins et le retard de croissance intra-utérin sont également associés. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Holzgreve-Syndrom","synonyms":["Gaumenspalte-Potter-Sequenz-kongenitale Herzanomalien-mesoaxiale Polydaktylie-multiple Fehlbildungen-Syndrom","Holzgreve-Wagner-Rehder-Syndrom"]},"es":{"name":"Síndrome de Holzgreve","synonyms":["Síndrome de Holzgreve-Wagner-Rehder","Síndrome de paladar hendido-sequencia de Potter-anomalías cardíacas congénitas-polidactilia mesoaxial-malformaciones múltiples"],"definition":"Es un síndrome dismófico / por múltiples anomalías congénitas letal y extremadamente infrecuente caracterizado por agenesia renal con secuencia de Potter, labio leporino / paladar hendido, sinequia oral, defectos cardíacos y anomalías esqueléticas, incluyendo la polidactilia postaxial. También puede asociar fallos de fijación intestinal y restricción del crecimiento intrauterino. No ha habido más casos descritos en la literatura desde 1988."},"it":{"name":"Sindrome di Holzgreve","definition":"La sindrome di Holzgreve è una malattia da anomalie/dismorfismi congeniti multipli molto rara e letale, caratterizzata da agenesia renale con sequenza di Potter labio/palatoschisi, sinechie orali, cardiopatie e anomalie scheletriche, inclusa la polidattilia postassiale. Si associano inoltre l'assenza di ancoraggio dell'intestino e il ritardo della crescita prenatale. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Syndroom van Holzgreve","synonyms":["Gespleten verhemelte - Potter-sequentie - congenitale hartanomalieën - meso-axiale polydactylie - multipele malformaties-syndroom","Syndroom van Holzgreve-Wagner-Rehder"],"definition":"Syndroom van Holzgreve is een uiterst zeldzaam, letaal, meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door renale agenesie met Potter sequentie, gespleten lip/verhemelte, orale synechieën, hartdefecten, en skeletafwijkingen waaronder postaxiale polydactylie. Gefaalde intestinale fixatie en intra-uteriene groeirestrictie zijn ook geassocieerd. Sinds 1988 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Holzgreve","synonyms":["Síndrome Holzgreve-Wagner-Rehder"]},"pl":{"name":"Zespół Holzgreve'a, Wagnera i Rehdera","synonyms":["Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome","Holzgreve-Wagner-Rehder syndrome"]},"cs":{"name":"Holzgreveův-Wagnerův-Rehderův syndrom","synonyms":["Holzgreve-Wagner-Rehderův syndrom"]},"uk":{"name":"Синдром Хольцгреве","synonyms":["Розщілина піднебіння-послідовність Поттера-вроджені вади серця-мезоаксіальна полідактилія-синдром множинних вад розвитку","Синдром Хольцгреве-Вагнера-Редера"],"definition":"Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988."},"zh":{"name":"Holzgreve综合征","synonyms":["Holzgreve-Wagner-Rehder综合征"]},"tr":{"name":"Holzgreve sendromu","synonyms":["Yarık damak-Potter dizisi-doğumsal kalp anomalileri-mezoaksiyal polidaktili-çoklu malformasyon sendromu","Holzgreve-Wagner-Rehder sendromu"]}},"xrefs":[{"source":"OMIM","code":"236110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009350","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535327","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856095","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2728","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]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6741992[PMID]_3309184[PMID]_3232694[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6741992[PMID]_3309184[PMID]_3232694[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null}]}}