{"orpha":85203,"name":"Acropectoral syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACRP syndrome","Syndactyly-preaxial polydactyly-sternal deformity syndrome"],"definition":"A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85203/","orphanet_url":"https://www.orpha.net/en/disease/detail/85203","names":{"fr":{"name":"Syndrome acropectoral","synonyms":["Syndrome ACRP","Syndrome de syndactylie-polydactylie préaxiale-déformation sternale"],"definition":"Le syndrome acro-pectoral est caractérisé par une combinaison d'anomalies distales des membres (syndactylie de tous les doigts et orteils, polydactylie préaxiale des pieds et/ou des mains) et de malformations sternales. Il a été décrit chez 22 patients appartenant à six générations d'une famille turque. Il se transmet sur le mode autosomique dominant et le gène en cause est situé en 7q36."},"de":{"name":"Akro-pektorales Syndrom","synonyms":["ACRP-Syndrom","Syndaktylie - präaxiale Polydaktylie - Sternumdeformität"],"definition":"Ein seltenes Syndrom, das durch eine Kombination aus Anomalien der distalen Gliedmaßen (Syndaktylie aller Finger und Zehen, präaxiale Polydaktylie an den Füßen und/oder Händen) und Fehlbildungen des oberen Brustbeins gekennzeichnet ist."},"es":{"name":"Síndrome acro-pectoral","synonyms":["Síndrome ACRP","Síndrome de sindactilia-polidactilia preaxial-deformidad del esternón"],"definition":"Un síndrome poco frecuente caracterizado por una combinación de anomalías de las extremidades distales (sindactilia de todos los dedos de manos y pies, polidactilia preaxial en los pies y/o manos) y malformaciones en la región esternal superior."},"it":{"name":"Sindrome acropettorale","synonyms":["Sindattilia - polidattilia preassiale - deformazione dello sterno","Sindrome ACRP"]},"nl":{"name":"Acropectoraal syndroom","synonyms":["ACRP-syndroom","Syndactylie - preaxiale polydactylie - misvorming van sternum-syndroom"],"definition":"Een zeldzaam syndroom, gekarakteriseerd door een combinatie van afwijkingen van distale ledematen (syndactylie van alle vingers en tenen, preaxiale polydactylie in voeten en/of handen) en malformaties van het bovenste gedeelte van het sternum."},"pt":{"name":"Síndrome acro-peitoral"},"pl":{"name":"Zespół kończynowo-piersiowy","synonyms":["Zespół ACRP","Zespół syndaktylii, polidaktylii przedosiowej i deformacji mostka"]},"cs":{"name":"Akropektorální syndrom","synonyms":["ACRP syndrom","Syndrom zahrnující syndaktylii, preaxiální polydaktylii a deformitu sterna"]},"uk":{"name":"Акропекторальний синдром","synonyms":["ACRP-синдром","Синдром преаксіальної полідактилії-стернальної деформації з синдактилією"],"definition":"A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations."},"zh":{"name":"Acropectoral综合征","synonyms":["并指-轴前多指-胸骨畸形综合征"]},"tr":{"name":"Akropektoral sendrom","synonyms":["ACRP sendromu","Sindaktili-preaksiyel polidaktili-sternal deformite sendromu"]}},"xrefs":[{"source":"OMIM","code":"605967","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB73.13","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1060723089"},{"source":"MONDO","code":"0011621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535664","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853812","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8485","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"22183091[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22183091[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null}]}}