{"orpha":2815,"name":"Spastic paraparesis-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Spastic paraparesis-hearing loss syndrome","Wells-Jankovic syndrome"],"definition":"A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2815/","orphanet_url":"https://www.orpha.net/en/disease/detail/2815","names":{"fr":{"name":"Syndrome de paraparésie spastique-surdité","synonyms":["Syndrome de Wells-Jankovic"],"definition":"Maladie neurologique rare caractérisée par une paraparésie spastique se présentant à la fin de l'enfance, ainsi que par une perte auditive. Parmi les autres caractéristiques cliniques, on observe des anomalies rétiniennes, des opacités lenticulaires, une petite taille, de l'hypogonadisme, des déficits sensoriels, des tremblements, de la dysdiadochokinésie, un taux élevé de protéines dans le liquide céphalorachidien, et les potentiels évoqués somatosensoriels n'enregistrent pas de pic, ou l'intervalle entre deux pics est anormalement prolongé. Les taux d'acides gras saturés à très longue chaîne dans le plasma, ainsi que le nombre de fibroblastes sont normaux. Aucun cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Spastische Paraparese-Schwerhörigkeit-Syndrom","synonyms":["Wells-Jankovic-Syndrom"],"definition":"Eine seltene neurologische Erkrankung, die durch spastische Paraparese in der späten Kindheit und Hörverlust gekennzeichnet ist. Weitere Merkmale können Netzhautanomalien, linsenförmige Trübungen, Kleinwuchs, Hypogonadismus, sensorische Defizite, Tremor, Dysdiochokinese, erhöhte Liquorproteine und fehlende oder verlängerte somatosensorisch evozierte Potenziale sein. Die Plasma- und Fibroblastenwerte für gesättigte, sehr langkettige Fettsäuren sind normal. Seit 1986 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de paraparesia espástica-sordera","synonyms":["Síndrome de Wells-Jankovic","Síndrome de paraparesia espástica-hipoacusia"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por paraparesia espástica que debuta en la infancia tardía asociada a pérdida auditiva. Otros hallazgos adicionales pueden incluir anomalías retinianas, opacidades lenticulares, talla baja, hipogonadismo, deficiencias sensitivas, temblor, disdiadococinesia, niveles elevados de proteína en líquido cefalorraquídeo con potenciales evocados somatosensoriales ausentes o prolongados. Los niveles de ácidos grasos saturados de cadena muy larga en plasma y fibroblastos son normales. No ha habido más casos descritos en la literatura desde 1986."},"it":{"name":"Sindrome da paraparesi spastica-sordità","synonyms":["Sindrome di Wells-Jankovic"],"definition":"Si tratta di una malattia neurologica rara, che esordisce nella tarda infanzia con tetraparesi spastica e sordità. Altri segni clinici comprendono le anomalie della retina, le opacità del cristallino, la bassa statura, l'ipogonadismo, i deficit sensoriali, il tremore, la disdiadococinesia, i livelli elevati di proteine nel liquido cerebrospinale e l'assenza o il prolungamento dei potenziali evocati somato-sensoriali. I livelli degli acidi grassi a catena molto lunga nel plasma e nei fibroblasti sono normali. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"Spastische paraparese - doofheid-syndroom","synonyms":["Syndroom van Wells-Jankovic"],"definition":"Een zeldzame neurologische ziekte gekarakteriseerd door spastische paraparese die zich voordoet in de late kindertijd en gehoorverlies. Mogelijke bijkomende kenmerken zijn onder meer anomalieën van het netvlies, lenstroebelingen, kleine gestalte, hypogonadisme, sensorische deficiënties, tremor, dysdiadochokinesie, verhoogd eiwitgehalte in het cerebrospinaal vocht, en afwezige of langdurige somatosensorisch geëvoceerde potentialen. De gehaltes van verzadigde zeer lange keten vetzuren in plasma en fibroblasten zijn normaal. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de paraparésia espástica-surdez","synonyms":["Síndrome Wells-Jankovic","Síndrome de paraparésia espástica-perda auditiva"]},"pl":{"name":"Parapareza spastyczna - głuchota","synonyms":["Zespół Wellsa i Jankovica"]},"cs":{"name":"Syndrom zahrnující spastickou paraparézu a hluchotu","synonyms":["Wellsové-Jankovicův syndrom","Wells-Jankovicův syndrom"]},"uk":{"name":"Синдром спастичного парапарезу-глухоти","synonyms":["Синдром спастичного парапарезу-туговухості","Синдром Веллса-Янковича"],"definition":"A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986."},"zh":{"name":"痉挛性轻瘫-耳聋综合征","synonyms":["痉挛性截瘫-听力丧失综合征"]},"tr":{"name":"Spastik paraparezi-sağırlık sendromu","synonyms":["Wells-Jankovic sendromu","Spastik paraparezi-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"312910","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1491138806"},{"source":"MONDO","code":"0010732","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536692","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931291","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"3741213[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3741213[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}