{"orpha":2821,"name":"Spastic paraplegia-neuropathy-poikiloderma syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Antinolo-Nieto-Borrego syndrome"],"definition":"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2821/","orphanet_url":"https://www.orpha.net/en/disease/detail/2821","names":{"fr":{"name":"Syndrome de paraplégie spastique-neuropathie-poïkilodermie","synonyms":["Syndrome d'Antinolo-Nieto-Borrego"],"definition":"Le syndrome de paraplégie spastique-neuropathie-poïkilodermie est une forme complexe de paraplégie spastique héréditaire, caractérisée par une paraplégie spastique, une neuropathie sensorimotrice périphérique démyélinisante, une poïkilodermie (se manifestant par une perte des sourcils et des cils pendant l'enfance, et une peau atrophiée, lisse et fragile), et une amyotrophie distale (survenant après la puberté). Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1992."},"de":{"name":"Spastische Paraplegie-Neuropathie-Poikilodermie-Syndrom","synonyms":["Antinolo-Nieto-Borrego-Syndrom"],"definition":"Eine komplexe Form der hereditären spastischen Paraplegie, die durch spastische Paraplegie, demyelinisierende periphere sensomotorische Neuropathie, Poikilodermie (manifestiert sich mit Verlust von Augenbrauen und Wimpern in der Kindheit zusätzlich zu zarter, glatter und überschüssiger Haut) und nach der Pubertät auftretender distaler Amyotrophie gekennzeichnet ist. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de paraplejía espástica-neuropatía-poiquilodermia","synonyms":["Síndrome de Antinolo-Nieto-Borrego"],"definition":"Es una forma compleja de paraplejía espástica hereditaria caracterizada por paraplejía espástica, neuropatía sensitivo-motora periférica desmielinizante, poiquilodermia (que se manifiesta con la pérdida de cejas y pestañas en la infancia además de piel delicada, suave y desgastada) y amiotrofia distal (que se presenta después de la pubertad). No ha habido más descripciones en la literatura desde 1992."},"it":{"name":"Paraplegia spastica - neuropatia - poichilodermia","synonyms":["Sindrome di Antinolo-Nieto-Borrego"],"definition":"La paraplegia spastica con neuropatia e poichilodermia è una forma complessa di paraplegia spastica ereditaria; è caratterizzata da paraplegia spastica, neuropatia sensitivo-motoria periferica demielinizzante, poichilodermia (che esordisce con la caduta delle ciglia e delle sopracciglia durante l'infanzia, associata a cute, delicata, liscia e atrofica) e amiotrofia distale (che insorge dopo la pubertà). Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Spastische paraplegie - neuropathie - poikilodermie-syndroom","synonyms":["Syndroom van Antinolo-Nieto-Borrego"],"definition":"Een complexe vorm van erfelijke spastische paraplegie, gekarakteriseerd door spastische paraplegie, demyeliniserende perifere sensomotorische neuropathie, poikilodermie (die zich manifesteert met verlies van wenkbrauwen en wimpers in de kindertijd bovenop delicate, gladde, en atrofische huid) en distale amyotrofie (die zich presenteert na de puberteit). Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de paraplegia espástica-neuropatia-poiquilodermia","synonyms":["Síndrome Antinolo-Nieto-Borrego"]},"pl":{"name":"Paraplegia spastyczna - neuropatia - poikiloderma","synonyms":["Zespół Antinolo, Nieto i Borrego"]},"cs":{"name":"Syndrom zahrnující spastickou paraplegii, neuropatii a poikilodermii","synonyms":["Antinoloův-Nietoův-Borregoův syndrom","Antinolo-Nieto-Borregoův syndrom"]},"uk":{"name":"Синдром спастичної параплегії-нейропатії-пойкілодермії","synonyms":["Синдром Антіноло-Ньєто-Боррего"],"definition":"A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992."},"zh":{"name":"痉挛性截瘫-神经病-皮肤异色病","synonyms":["Antinolo-Nieto-Borrego综合征"]},"tr":{"name":"Spastik parapleji-nöropati-poikiloderma sendromu","synonyms":["Antinolo-Nieto-Borrego sendromu"]}},"xrefs":[{"source":"OMIM","code":"182815","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008442","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706448","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4921","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1623621[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1623621[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-11","source":"1623621[PMID]","terms":[{"hpo":"HP:0003400","label":"Basal lamina 'onion bulb' formation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null}]}}