{"orpha":1485,"name":"Arthrogryposis-hyperkeratosis syndrome, lethal form","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Johnston-Aarons-Schelley syndrome"],"definition":"A rare arthrogryposis multiplex congenita characterized by contractures (of the large joints, fingers and toes) and hyperkeratosis. Patients present with prematurity and decreased or absent sensory response. Severe hypoplasia of the dorsal roots and posterior columns has been reported. It is a lethal condition that occurs in early infancy. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1485/","orphanet_url":"https://www.orpha.net/en/disease/detail/1485","names":{"fr":{"name":"Arthrogrypose-hyperkératose létale","synonyms":["Syndrome de Johnston-Aarons-Schelley"],"definition":"Un syndrome rare d'arthrogrypose caractérisé par de multiples contractures articulaires congénitales (affectant les grosses articulations, les doigts et les orteils) associées à une hyperkératose (peau épaissie, fissurée et desquamante). Le syndrome est fatal en début de petite enfance. Il n'y a pas eu de description ultérieure dans la littérature depuis 1993."},"de":{"name":"Arthrogrypose-Hyperkeratose-Syndrom, letaler Typ","synonyms":["Johnston-Aarons-Schelley-Syndrom"],"definition":"Eine seltene Form der Arthrogryposis multiplex congenita, die durch Kontrakturen (der großen Gelenke, Finger und Zehen) und Hyperkeratose gekennzeichnet ist. Die Patienten weisen eine Frühgeburtlichkeit und eine verminderte oder fehlende sensorische Reaktion auf. Es wurde über eine schwere Hypoplasie der dorsalen Wurzeln und der hinteren Säulen berichtet. Es handelt sich um eine tödliche Erkrankung, die im frühen Säuglingsalter auftritt. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de artrogriposis-hiperqueratosis, forma letal","definition":"Es una artrogriposis múltiple congénita poco frecuente caracterizada por contracturas (de las grandes articulaciones, dedos de manos y pies) e hiperqueratosis. Los pacientes presentan prematuridad y disminución o ausencia de respuesta sensitiva. Se ha descrito hipoplasia grave de las raíces dorsales y de las columnas posteriores. Es una afección mortal que se presenta en la primera infancia. No se han descrito más casos en la literatura desde 1993."},"it":{"name":"Artrogriposi - ipercheratosi, forma letale","synonyms":["Sindrome di Johnston-Aarons-Schelley"],"definition":"L'artrogriposi-ipercheratosi, forma letale, è una sindrome da artrogriposi descritta in due fratelli e caratterizzata dall'associazione tra contratture articolari congenite multiple (grandi articolazioni, dita delle mani e dei piedi) e ipercheratosi (cute ispessita, desquamata e fissurata); il decesso avviene nella prima infanzia. Gli ultimi casi descritti risalgono al 1993."},"nl":{"name":"Artrogrypose - hyperkeratose-syndroom, letale vorm","synonyms":["Syndroom van Johnston-Aarons-Schelley"],"definition":"Een zeldzame arthrogryposis multiplex congenita, gekenmerkt door contracturen (van grote gewrichten, vingers en tenen) en hyperkeratose. Patiënten vertonen prematuriteit en verminderde of afwezige sensorische respons. Er werd ernstige hypoplasie van de dorsale zenuwwortels en achterstrengen gerapporteerd. Het is een letale aandoening die optreedt in de vroege zuigelingentijd. Sinds 1993 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de artrogripose-hiperqueratose, forma letal","synonyms":["Síndrome Johnston-Aarons-Schelley"]},"pl":{"name":"Artrogrypoza - hiperkeratoza forma śmiertelna","synonyms":["Zespół Johnstona, Aaronsa i Schelley"]},"cs":{"name":"Syndrom zahrnující artrogrypózu a hyperkeratózu, letální forma","synonyms":["Johnstonové-Aaronsův-Schelleyové syndrom","Johnston-Aarons-Schelleyové syndrom"]},"uk":{"name":"Артрогрипозно-гіперкератозний синдром, летальна форма","synonyms":["Синдром Джонстона-Ааронса-Шеллі"],"definition":"A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993."},"zh":{"name":"关节挛缩-角化过度综合征，致死型","synonyms":["Johnston-Aarons-Schelley综合征"]},"tr":{"name":"Artrogripozis-hiperkeratoz sendromu, letal form","synonyms":["Johnston-Aarons-Schelley sendromu"]}},"xrefs":[{"source":"OMIM","code":"208158","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008826","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535883","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859710","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8213913[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8213913[PMID]"}],"phenotypes":null}