{"orpha":329191,"name":"Tall stature-long halluces-multiple extra-epiphyses syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Tall stature-scoliosis-macrodactyly of the halluces syndrome"],"definition":"Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329191/","orphanet_url":"https://www.orpha.net/en/disease/detail/329191","names":{"fr":{"name":"Syndrome de grande taille-gros orteils longs-épiphyses surnuméraires multiples","definition":"Syndrome génétique rare de croissance excessive ou grande taille avec atteinte osseuse caractérisé par une croissance excessive précoce et proportionnelle, une ostéopénie, une scoliose lombaire, une arachnodactylie des mains et des pieds, une macrodactylie de l'hallux, une coxa valga avec dysplasie épiphysaire des épiphyses fémorales supérieures et une susceptibilité au glissement de l'épiphyse fémorale supérieure."},"de":{"name":"Hochwuchs-lange Großzehen-multiple zusätzliche Epiphysen-Syndrom","synonyms":["Hochwuchs-Skoliose-Makrodaktylie der Großzehen-Syndrom"]},"es":{"name":"Síndrome de talla alta-halluces largos-extra epífisis múltiple","synonyms":["Síndrome de talla alta-dedos gordos del pie largos-extra epífisis múltiple","Síndrome de talla alta-escoliosis-macrodactilia de los dedos gordos del pie"],"definition":"Es un síndrome genético poco frecuente de sobrecrecimiento, o de talla alta, con afectación esquelética. Está caracterizado por sobrecrecimiento temprano y proporcionado, osteopenia, escoliosis lumbar, aracnodactilia de manos y pies, macrodactilia del primer dedo del pie, coxa valga con displasia epifisaria de las epífisis de la cabeza femoral y predisposición al deslizamiento de la epífisis capital femoral."},"it":{"name":"Sindrome alta statura-alluci allungati-epifisi multiple in sovrannumero","synonyms":["Sindrome da alta statura-scoliosi-macrodattilia degli alluci"],"definition":"La sindrome che associa alta statura, scoliosi e macrodattilia degli alluci è una malattia genetica rara da iperaccrescimento o alta statura con interessamento scheletrico, caratterizzata da iperaccrescimento precoce proporzionato, osteopenia, scoliosi lombare, aracnodattilia delle mani e dei piedi, macrodattilia degli alluci, coxa valga con displasia delle epifisi della testa del femore e suscettibilità all'epifisiolisi della testa del femore."},"nl":{"name":"Grote gestalte - lange halluces - multipele extra epifysen-syndroom","synonyms":["Grote gestalte - scoliose - macrodactylie van hallux-syndroom"],"definition":"Grote gestalte - scoliose - macrodactylie van de grote tenen-syndroom is een zeldzaam, genetisch overgroei- of grote gestalte-syndroom met betrokkenheid van het skelet, en wordt gekarakteriseerd door vroege en proportionele overgroei, osteopenie, lumbale scoliose, arachnodactylie van de handen en voeten, macrodactylie van de hallux (grote teen), coxa valga met epifysaire dysplasie van de epifysen van de heupkop en vatbaarheid voor epifysiolyse van de heup (afgegleden heupkop)."},"pt":{"name":"Síndrome de estatura elevada-háluces longos-extra-epífises múltiplas","synonyms":["Síndrome de estatura elevada-escoliose-macrodactilia dos háluces"]},"pl":{"name":"Wysoki wzrost - skolioza - makrodaktylia dużych palców stóp","synonyms":["Wysoki wzrost - skolioza - makrodaktylia paluchów","Zespół wysokiego wzrostu, długich paluchów, mnogich dodatkowych nasad kości"]},"cs":{"name":"Syndrom zahrnující vysoký vzrůst, dlouhé palce na nohách a nadpočetné epifýzy","synonyms":["Tall stature-scoliosis-macrodactyly of the halluces syndrome"]},"uk":{"name":"Синдром високорослості-довгих великих пальців-множинних екстраепіфізів","synonyms":["Синдром високого зросту-сколіозу-макродактилії"],"definition":"Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis."},"zh":{"name":"身材高大-脊柱侧凸-巨趾综合征","synonyms":["身材高大-脊柱侧凸-拇趾巨趾综合征"],"definition":"身材高大-脊柱侧凸-巨趾综合征是一种罕见的遗传性、过度生长或身材高大综合征，伴有骨骼受累，其特征是早期和成比例的过度生长、骨量减少、腰椎侧凸、手脚蜘蛛样指、拇趾巨指，髋外翻伴股骨头骨骺发育不良及股骨头骨骺易滑脱。"},"tr":{"name":"Uzun boy-skolyoz-büyük ayak başparmağı makrodaktilisi sendromu","synonyms":["Uzun boy- skolyoz-halluks sendromunun makrodaktilisi"]}},"xrefs":[{"source":"OMIM","code":"615923","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619543","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749503","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"NPR2","name":"natriuretic peptide receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22870295[PMID]","hgnc":"7944","ensembl":"ENSG00000159899","omim":"108961","loci":["9p13.3"]},{"symbol":"NPR3","name":"natriuretic peptide receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30032985[PMID]","hgnc":"7945","ensembl":"ENSG00000113389","omim":"108962","loci":["5p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22870295[PMID]_23243086[PMID]_24259409[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}