{"orpha":1078,"name":"Thumb stiffness-brachydactyly-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Piussan-Lenaerts-Mathieu syndrome"],"definition":"A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1078/","orphanet_url":"https://www.orpha.net/en/disease/detail/1078","names":{"fr":{"name":"Syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle","synonyms":["Syndrome de Piussan-Lenaerts-Mathieu"],"definition":"Syndrome rare d'origine génétique avec anomalie congénitale des membres, caractérisé par une ankylose bilatérale des pouces, une brachydactylie de type A et une déficience intellectuelle légère à modérée. Les patients présentent une ankylose des pouces et des anomalies des métacarpiens, fréquemment associées à une légère dysmorphie faciale et à des signes d'obésité. Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Steifer Daumen-Brachydaktylie-Intelligenzminderung-Syndrom","synonyms":["Piussan-Lenaerts-Mathieu-Syndrom"],"definition":"Ein seltene, genetisch bedingte angeborene Fehlbildung der Gliedmaßen, gekennzeichnet durch beidseitige Daumenankylose, Brachydaktylie Typ A und leichte bis mittlere Intelligenzminderung. Die Patienten weisen eine Daumensteifigkeit und Anomalien der Mittelhandknochen auf, häufig in Verbindung mit leichten Gesichtsdysmorphien und Anzeichen von Adipositas. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de anquilosis de pulgares-braquidactilia-discapacidad intelectual","synonyms":["Síndrome de Piussan-Lenaerts-Mathieu"],"definition":"Es un síndrome malformativo de las extremidades, congénito, genético y poco frecuente. Está caracterizado por anquilosis bilateral del pulgar, braquidactilia tipo A y discapacidad intelectual de leve a moderada. Los pacientes presentan rigidez de pulgares y anomalías de los huesos metacarpianos asociados con frecuencia a leve dismorfia facial y signos de obesidad. No ha habido más casos descritos en la literatura desde 1990."},"it":{"name":"Sindrome da rigidità dei pollici, brachidattilia e disabilità intellettiva","synonyms":["Sindrome di Piussan-Lenaerts-Mathieu"],"definition":"È una malformazione congenita rara degli arti, di origine genetica, caratterizzata da anchilosi bilaterale dei pollici, brachidattilia tipo A e disabilità intellettiva lieve-moderata. I pazienti presentano rigidità dei pollici e anomalie delle ossa del metacarpo, spesso associate a dismorfismi facciali sfumati e obesità. Non sono stati descritti nuovi casi dopo il 1990."},"nl":{"name":"Stijve duim - brachydactylie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Piussan-Lenaerts-Mathieu"],"definition":"Een zeldzaam, genetisch, congenitaal malformatiesyndroom van ledematen, gekarakteriseerd door bilaterale ankylose van duim, type A brachydactylie, en milde tot matige intellectuele achterstand. Patiënten vertonen stijve duimen en afwijkingen van middenhandsbeentjes, vaak geassocieerd met milde faciale dysmorfie en tekenen van obesitas. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de polegar rígido-braquidactilia-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Piussan-Lenaerts-Mathieu"]},"pl":{"name":"Sztywność kciuka - brachydaktylia - niepełnosprawność intelektualna","synonyms":["Zespół Piussana, Lenaertsa i Mathieu"]},"cs":{"name":"Syndrom zahrnující tuhost palců, brachydaktylii a mentální retardaci","synonyms":["Piussanův-Lenaertsův-Mathieuův syndrom","Piussan-Lenaerts-Mathieuův syndrom"]},"uk":{"name":"Синдром скутості великого пальця-брахідактилії-інтелектуальної недостатності","synonyms":["Синдром Пюссана-Ленартса-Матьє"],"definition":"A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990."},"zh":{"name":"拇指僵硬-短肢畸形-智力障碍综合征","synonyms":["Piussan-Lenaerts-Mathieu综合征"]},"tr":{"name":"Başparmak sertliği-brakidaktili-zihinsel yetersizlik sendromu","synonyms":["Piussan-Lenaerts-Mathieu sendromu"]}},"xrefs":[{"source":"OMIM","code":"188201","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008563","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537511","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931515","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4375","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"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 dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"6631421[PMID]_2363441[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6631421[PMID]_2363441[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009370","label":"Type A brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null}]}}