{"orpha":2824,"name":"Paraplegia-intellectual disability-hyperkeratosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fitzsimmons-McLachlan-Gilbert syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2824/","orphanet_url":"https://www.orpha.net/en/disease/detail/2824","names":{"fr":{"name":"Syndrome de paraplégie-déficience intellectuelle-hyperkératose","synonyms":["Syndrome de Fitzsimmons-McLachlan-Gilbert"],"definition":"Déficience intellectuelle syndromique rare liée à l'X, caractérisée par une déficience intellectuelle de sévérité variable, une paraplégie spastique progressive des membres inférieurs et une hyperkératose palmoplantaire diffuse. Les autres signes observés sont des pieds creux, le réflexe cutané plantaire, des tremblements de mains et une légère dysmorphie faciale."},"de":{"name":"Paraplegie-Intelligenzminderung-Hyperkeratose-Syndrom","synonyms":["Fitzsimmons-McLachlan-Gilbert-Syndrom"],"definition":"Eine X-chromosomale syndromale Form der Intelligenzminderung, die durch eine intellektuelle Beeinträchtigung unterschiedlichen Schweregrades, eine progressive Spastik der unteren Gliedmaßen und eine diffuse palmoplantare Hyperkeratose gekennzeichnet ist. Weitere Erscheinungsformen sind Pes cavus, extensorische Plantarreflexe, Handtremor und leichte Gesichtsdysmorphien."},"es":{"name":"Síndrome de paraplejía-discapacidad intelectual-hiperqueratosis","synonyms":["Síndrome de Fitzsimmons-McLachlan-Gilbert"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X que se caracteriza por una alteración cognitiva de gravedad variable, espasticidad progresiva de las extremidades inferiores e hiperqueratosis palmoplantar difusa. Otras manifestaciones adicionales incluyen pie cavo, respuestas plantares extensoras, temblor de la mano y rasgos faciales dismórficos leves."},"it":{"name":"Sindrome paraplegia-disabilità intellettiva-ipercheratosi","synonyms":["Sindrome di Fitzsimmons-McLachlan-Gilbert"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata dal deficit intellettivo di gravità variabile, con spasticità progressiva degli arti inferiori e ipercheratosi palmoplantare diffusa. Altri segni clinici sono il piede cavo, le risposte plantari in estensione, i tremori delle mani e i dismorfismi facciali sfumati."},"nl":{"name":"Paraplegie - intellectuele achterstand - hyperkeratose-syndroom","synonyms":["Syndroom van Fitzsimmons-McLachlan-Gilbert"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekarakteriseerd door intellectuele beperking met variabele ernst, progressieve spasticiteit van onderste ledematen, en diffuse palmoplantaire hyperkeratose. Bijkomende manifestaties zijn onder meer pes cavus, voetzoolreflexen in extensie, handtremor, en milde dysmorfe gelaatskenmerken."},"pt":{"name":"Síndrome de paraplegia-perturbação do desenvolvimento intelectual-hiperqueratose","synonyms":["Síndrome Fitzsimmons-McLachlan-Gilbert"]},"pl":{"name":"Paraplegia - niepełnosprawność intelektualna - hiperkeratoza","synonyms":["Zespół Fitzsimmonsa, McLachlan i Gilberta"]},"cs":{"name":"Syndrom zahrnující paraplegii, mentální retardaci a hyperkeratózu","synonyms":["Fitzsimmonsův-McLachlanův-Gilbertův syndrom","Fitzsimmons-McLachlan-Gilbertův syndrom"]},"uk":{"name":"Синдром параплегії-інтелектуальної недостатності-гіперкератозу","synonyms":["Синдром Фіцсіммонса-МакЛахлана-Гілберта"],"definition":"A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features."},"zh":{"name":"截瘫-智力障碍-角化过度综合征","synonyms":["Fitzsimmons-McLachlan-Gilbert 综合征"]},"tr":{"name":"Parapleji-zihinsel yetersizlik-hiperkeratoz sendromu","synonyms":["Fitzsimmons-McLachlan-Gilbert sendromu"]}},"xrefs":[{"source":"OMIM","code":"309560","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G82.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010662","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537058","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2745996","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2344","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23613454[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null}]}}