{"orpha":1553,"name":"Curry-Jones syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Corpus callosum agenesis-polysyndactyly syndrome"],"definition":"Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1553/","orphanet_url":"https://www.orpha.net/en/disease/detail/1553","names":{"fr":{"name":"Syndrome de Curry-Jones","synonyms":["Syndrome d'agénésie du corps calleux-polysyndactylie"],"definition":"Craniosynostose syndromique caractérisée par une craniosynostose coronale unilatérale ou une synostose de plusieurs sutures associée à une agénésie complète ou partielle du corps calleux, une polysyndactylie et une syndactylie préaxiale des doigts et/ou des orteils, ainsi que des anomalies cutanées (des zones de couleur blanc nacré caractéristique devenant cicatricielles et atrophiées, une pilosité anormale couvrant la zone autour des yeux et/ou les joues et les membres), des anomalies oculaires (colobomes irien, microphtalmie) et de l'intestin (intestin court dû à une anomalie congénitale, malrotation intestinale, dysmotilité, constipation chronique, saignements et myofibromes). On peut également observer un retard de développement et une déficience intellectuelle de sévérité variable. Sont par ailleurs rapportés de multiples hamartomes intra-abdominaux des muscles lisses, des tricho blastomes de la peau, des méningocèles occipitales et des médulloblastomes desmoplastiques."},"de":{"name":"Curry-Jones-Syndrom","synonyms":["Corpus-callosum-Agenesie - Polysyndaktylie"],"definition":"Das Curry-Jones-Syndrom ist eine Form der syndromalen Kraniosynostose, die durch einseitige koronale oder multiple Kraniosynostose gekennzeichnet ist, die mit einer vollständigen oder teilweisen Corpus callosum-Agenesie, präaxialer Polysyndaktie und Syndaktylie von Händen und/oder Füßen einhergeht. Weitere Kennzeichen sind Anomalien der Haut (charakteristische perlweiße Bereiche, die vernarbt und atrophisch werden, abnormaler Haarwuchs um die Augen und/oder Wangen herum und an den Gliedmaßen), der Augen (Iriscolobome, Mikrophthalmie,) und des Darms (angeborener Kurzdarm, Malrotation, Dysmotilität, chronische Verstopfung, Blutungen und Myofibrome). Entwicklungsverzögerungen und unterschiedliche Grade der Intelligenzminderung können auftreten. Auch multiple intraabdominale Hamartome der glatten Muskeln, Trichoblastome der Haut, okzipitale Meningokel und die Entwicklung eines desmoplastischen Medulloblastoms wurden beschrieben."},"es":{"name":"Síndrome de Curry-Jones","synonyms":["Agenesia de cuerpo calloso-polisindactilia"],"definition":"Es una forma de craneosinostosis sindrómica caracterizada por craneosinostosis coronal unilateral o sinostosis de múltiples suturas asociada a agenesia parcial o completa del cuerpo calloso, polisindactilia preaxial y sindactilia de manos y/o pies, junto con anomalías de la piel (áreas blancas perladas características que cicatrizan y se atrofian, crecimiento anómalo de vello alrededor de los ojos y/o mejillas, y en las extremidades), anomalías de los ojos (coloboma del iris, microftalmia) y anomalías del intestino (intestino corto congénito, malrotación, dismotilidad, estreñimiento crónico, sangrado y miofibromas). También se puede observar retraso psicomotor y grados variables de discapacidad intelectual. Se han descrito múltiples hamartomas de músculo liso intraabdominal, tricoblastoma de la piel, meningoceles occipitales y desarrollo de meduloblastoma desmoplásico."},"it":{"name":"Sindrome di Curry-Jones","synonyms":["Agenesia del corpo calloso - polisindattilia"],"definition":"La sindrome di Curry-Jones è una forma di craniosinostosi sindromica caratterizzata da craniosinostosi coronale monolaterale o da sinostosi multiple delle suture, associate ad agenesia totale o parziale del corpo calloso, polisindattilia preassiale e sindattilia delle mani e/o dei piedi, anomalie della cute (aree caratteristiche di colore bianco che diventano atrofiche e di aspetto cicatriziale, crescita anomala di peli attorno agli occhi e/o sulle guance e sugli arti), degli occhi (coloboma dell'iride, microftalmia) e dell'intestino (intestino corto congenito, malrotazione, dismotilità, costipazione cronica, emorragie e miofibromi). I pazienti possono presentare anche ritardo dello sviluppo e disabilità intellettiva di gravità variabile. Sono stati descritti anche amartomi multipli intraddominali del tessuto muscolare liscio, tricoblastomi della cute, meningocele occipitale e medulloblastoma desmoplastico."},"nl":{"name":"Syndroom van Curry-Jones","synonyms":["Agenesie van het corpus callosum - polysyndactylie-syndroom"],"definition":"Syndroom van Curry-Jones is een vorm van syndromale craniosynostose die wordt gekarakteriseerd door unilaterale coronale craniosynostose of synostose van meerdere suturen, geassocieerd met volledige of gedeeltelijke agenesie van het corpus callosum, pre-axiale polysyndactylie en syndactylie van handen en/of voeten, in combinatie met anomalieën van de huid (kenmerkende parelwitte gebieden die littekenvorming en atrofie vertonen, abnormale haargroei rond de ogen en/of wangen en op de ledematen), de ogen (iriscolobomen, microftalmie) en de ingewanden (aangeboren korte darm, malrotatie, dysmotiliteit, chronische constipatie, bloedingen en myofibromen). Ook ontwikkelingsachterstand en verschillende gradaties van intellectuele achterstand kunnen waargenomen worden. Multipele intra-abdominale hamartomen van glad spierweefsel, trichoblastoom van de huid, occipitale meningocèle en ontwikkeling van desmoplastisch medulloblastoom werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome Curry-Jones","synonyms":["Agenesia do corpo caloso-polissindactilia"]},"pl":{"name":"Zespół Curry'ego i Jonesa","synonyms":["Agnezja ciała modzelowatego - polisyndaktylia"]},"cs":{"name":"Curryho-Jonesův syndrom","synonyms":["Syndrom zahrnující agenezi corpus callosum a polysyndaktylii","Curry-Jonesův syndrom"]},"uk":{"name":"Синдром Каррі-Джонса","synonyms":["Синдром агенезії мозолистого тіла - полісиндактилія"],"definition":"Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported."},"zh":{"name":"Curry-Jones综合征","synonyms":["胼胝体发育不全-多指综合征"]},"tr":{"name":"Curry-Jones sendromu","synonyms":["Korpus kallozum agenezi-polisindaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"601707","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011134","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795915","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5584","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":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SMO","name":"smoothened, frizzled class receptor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27236920[PMID]","hgnc":"11119","ensembl":"ENSG00000128602","omim":"601500","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"18798318[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:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009602","label":"Abnormality of thumb phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null}]}}