{"orpha":2819,"name":"Spastic paraplegia-facial-cutaneous lesions syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Bahemuka-Brown syndrome"],"definition":"A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2819/","orphanet_url":"https://www.orpha.net/en/disease/detail/2819","names":{"fr":{"name":"Syndrome de paraplégie spastique-lésions cutanées faciales","synonyms":["Syndrome de Bahemuka-Brown"],"definition":"Le syndrome de paraplégie spastique-lésions cutanées faciales est une forme complexe de paraplégie spastique héréditaire caractérisée par un retard de développement moteur, suivi d'une paraplégie spastique lentement progressive (affectant surtout les extrémités inférieures) associée à une éruption faciale desquamante en forme de papillon (survenant vers l'âge de deux mois) et une dysarthrie. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1982."},"de":{"name":"Spastische Paraplegie-kutane Gesichtsläsionen-Syndrom","synonyms":["Bahemuka-Brown-Syndrom"],"definition":"Das Spastische Paraplegie-kutane Gesichtsläsionen-Syndrom ist eine komplexe Form der hereditären spastischen Paraplegie, die durch Verzögerungen in der motorischen Entwicklung, gefolgt von einer langsam progredienten spastischen Paraplegie (die hauptsächlich die unteren Extremitäten betrifft) in Verbindung mit einem schuppenden Gesichtsausschlag mit Schmetterlingsverteilung (der sich im Alter von etwa zwei Monaten zeigt) und Dysarthrie gekennzeichnet ist. Seit 1982 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de paraplejía espástica-lesiones cutáneas faciales","synonyms":["Síndrome de Bahemuka-Brown"],"definition":"Es una forma compleja de paraplejía espástica hereditaria caracterizada por retraso del desarrollo motor seguido de paraplejía espástica lentamente progresiva (que afecta principalmente a las extremidades inferiores) asociada a un sarpullido facial descamativo en forma de mariposa (que se presenta alrededor de los dos meses de edad) y disartria. No ha habido descripciones adicionales en la literatura desde 1982."},"it":{"name":"Paraplegia spastica - lesioni cutanee facciali","synonyms":["Sindrome di Bahemuka-Brown"],"definition":"La paraplegia spastica con lesioni cutanee sulla faccia è una forma complessa di paraplegia spastica ereditaria; è caratterizzata da un ritardo dello sviluppo motorio, seguito da paraplegia spastica a progressione lenta (che interessa per lo più le estremità inferiori), associata a rash con desquamazione della cute del viso con distribuzione a farfalla (che esordisce attorno ai due mesi di vita) e disartria. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Spastische paraplegie - faciale-cutane laesies-syndroom","synonyms":["Syndroom van Bahemuka-Brown"],"definition":"Een complexe vorm van erfelijke spastische paraplegie, gekarakteriseerd door motorische ontwikkelingsachterstand, gevolgd door een traag progressieve spastische paraplegie (die vooral onderste ledematen treft) geassocieerd met een afschilferende huiduitslag in het gelaat in een vlinderverdeling (die zich vertoont rond de leeftijd van twee maanden) en dysartrie. Sinds 1982 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Síndrome de paraplegia espástica-lesões cutâneas da face","synonyms":["Síndrome Bahemuka-Brown"]},"pl":{"name":"Paraplegia spastyczna - zmiany skórne na twarzy","synonyms":["Zespół Bahemuka i Browna"]},"cs":{"name":"Syndrom zahrnující spastickou paraplegii a faciální a kožní léze","synonyms":["Bahemukaův-Brownův syndrom","Bahemuka-Brownův syndrom"]},"uk":{"name":"Синдром спастичної параплегії з лицьово-шкірними ураженнями","synonyms":["Синдром Баємуки-Брауна"],"definition":"A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982."},"zh":{"name":"痉挛性截瘫-面部-皮肤损伤综合征","synonyms":["Bahemuka-Brown综合征"]},"tr":{"name":"Spastik parapleji-yüz-deri lezyonları sendromu","synonyms":["Bahemuka-Brown sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537797","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931617","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"806","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":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"7117711[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7117711[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-26","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null}]}}