{"orpha":2427,"name":"Macrocephaly-short stature-paraplegia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Volcke-Soekarman syndrome"],"definition":"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2427/","orphanet_url":"https://www.orpha.net/en/disease/detail/2427","names":{"fr":{"name":"Syndrome de macrocéphalie-petite taille-paraplégie","synonyms":["Syndrome de Volcke-Soekarman"],"definition":"Déficience intellectuelle syndromique rare caractérisée par une macrocéphalie, une petite taille, une déficience intellectuelle, une paraplégie spastique de degré variable, des anomalies du système nerveux central (hydrocéphalie, syndrome de Dandy-Walker) et une dysmorphie à type de front haut et large, d'hypoplasie de l'étage moyen du visage et de larges mains et pieds de petite taille. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Makrozephalie-Kleinwuchs-Paraplegie-Syndrom","synonyms":["Volcke-Soekarman-Syndrom"],"definition":"Eine seltene syndromale Form der Intelligenzminderung, die durch Makrozephalie, Kleinwuchs, Intelligenzminderung, spastische Paraplegie unterschiedlichen Grades, Fehlbildungen des Zentralnervensystems (Hydrozephalus, Dandy-Walker-Fehlbildung) und dysmorphe Merkmale wie hohe und breite Stirn, Mittelgesichtshypoplasie sowie kleine und breite Hände und Füße gekennzeichnet ist. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de macrocefalia-talla baja-paraplejía","synonyms":["Macrocefalia-talla baja-paraplejía","Síndrome de Volcke-Soekarman"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por macrocefalia, talla baja, discapacidad intelectual, grado variable de paraplejía espástica, malformaciones del sistema nervioso central (hidrocefalia, malformación de Dandy-Walker) y rasgos dismórficos, tales como frente alta y ancha, hipoplasia mediofacial y manos y pies pequeños y anchos. No ha habido más casos descritos en la literatura desde 1993."},"it":{"name":"Sindrome macrocefalia-bassa statura-paraplegia","synonyms":["Sindrome di Volcke-Soekarman"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, caratterizzata da macrocefalia, bassa statura, disabilità intellettiva, paraplegia spastica di gravità variabile, malformazioni del sistema nervoso centrale (idrocefalo, malformazione di Dandy-Walker) e dismorfismi (fronte alta e ampia, ipoplasia medio-facciale, mani e piedi piccoli e larghi). Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Macrocefalie - kleine gestalte - paraplegie-syndroom","synonyms":["Syndroom van Volcke-Soekarman"],"definition":"Een zeldzame syndromale intellectuele achterstand, gekarakteriseerd door macrocefalie, kleine gestalte, intellectuele achterstand, variabele gradaties van spastische paraplegie, malformaties van centraal zenuwstelsel (hydrocefalie, Dandy-Walker malformatie), en dysmorfe kenmerken, waaronder hoog en breed voorhoofd, hypoplasie van middengezicht, en kleine en brede handen en voeten. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de macrocefalia-baixa estatura-paraplegia","synonyms":["Síndrome Volcke-Soekarman"]},"pl":{"name":"Makrocefalia- niski wzrost - paraplegia","synonyms":["Zespół Volcke i Soekarmana"]},"cs":{"name":"Syndrom zahrnující makrocefalii, malý vzrůst a paraplegii","synonyms":["Volckeho-Soekarmanův syndrom","Volcke-Soekarmanův syndrom"]},"uk":{"name":"Синдром макроцефалії-низькорослості-параплегії","synonyms":["Синдром Фольке-Соекармана"],"definition":"A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993."},"zh":{"name":"大头畸形-身材矮小-截瘫综合征","synonyms":["Volcke-Soekarman 综合征"]},"tr":{"name":"Makrosefali kısa boy parapleji sendromu","synonyms":["Volcke-Soekarman sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016571","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537718","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931595","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"172","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8471221[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8471221[PMID]"}],"phenotypes":null}