{"orpha":268882,"name":"Arnold-Chiari malformation type I","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Chiari malformation type 1","Chiari malformation type I","Arnold-Chiari malformation type 1"],"definition":"A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268882/","orphanet_url":"https://www.orpha.net/en/disease/detail/268882","names":{"fr":{"name":"Malformation d'Arnold-Chiari type I","synonyms":["Malformation d'Arnold-Chiari type 1","Malformation de Chiari type 1","Malformation de Chiari type I"],"definition":"Malformation du système nerveux central caractérisée par un déplacement caudal des amygdales cérébelleuses de plus de 5&nbps;mm sous le foramen magnum, avec ou sans syringomyélie. Les symptômes, qui varient quant à la gravité et au moment d'apparition, sont : des céphalées sous-occipitales, des douleurs cervicales, des vertiges, des acouphènes, une atteinte oculaire (diplopie, vision floue, photophobie, nystagmus), des signes d'atteinte des nerfs crâniens inférieurs, une ataxie cérébelleuse et une spasticité. Certaines personnes atteintes peuvent être asymptomatiques."},"de":{"name":"Arnold-Chiari-Fehlbildung Typ I","synonyms":["Chiari-Malformation Typ 1"],"definition":"Eine Fehlbildung des zentralen Nervensystems, die durch eine Verlagerung der Kleinhirntonsillen nach kaudal von mehr als 5 mm unterhalb des Foramen magnum mit oder ohne Syringomyelie gekennzeichnet ist. Die Symptome variieren in Auftreten und Schweregrad und umfassen subokzipitale Kopfschmerzen, Nackenschmerzen, Schwindel, Tinnitus, Augensymptome (Diplopie, verschwommenes Sehen, Photophobie, Nystagmus), Anzeichen einer Schädigung der unteren Hirnnerven, zerebelläre Ataxie und Spastik. Einige Betroffene können asymptomatisch sein."},"es":{"name":"Malformación de Arnold-Chiari tipo I","synonyms":["Malformación de Arnold-Chiari tipo 1","Malformación de Chiari tipo 1","Malformación de Chiari tipo I"],"definition":"Es una malformación del sistema nervioso central caracterizada por un desplazamiento caudal de las amígdalas cerebelosas que sobrepasan 5 mm por debajo del foramen magnum con o sin siringomielia. Los síntomas varían tanto en inicio como en gravedad, e incluyen cefalea suboccipital, dolor cervical, vértigo, tinnitus, síntomas oculares (diplopía, visión borrosa, fotofobia, nistagmo), signos de pares craneales bajos, ataxia cerebelosa y espasticidad. Algunos portadores de la alteración genética pueden estar asintomáticos."},"it":{"name":"Malformazione di Arnold-Chiari, tipo I","synonyms":["Malformazione di Arnold-Chiari, tipo 1","Malformazione di Chiari, tipo 1","Malformazione di Chiari, tipo I"],"definition":"La malformazione di Arnold-Chiari tipo I è una malformazione del sistema nervoso centrale, caratterizzata dalla dislocazione caudale delle tonsille cerebellari, che si trovano 5 mm più in basso rispetto al forame magno, con o senza siringomielia. L'esordio e la gravità dei segni clinici sono variabili e comprendono la cefalea suboccipitale, il dolore al collo, le vertigini, gli acufeni, i sintomi oculari (diplopia, annebbiamento della vista, fotofobia, nistagmo), i segni clinici correlati ai nervi cranici inferiori, l'atassia cerebellare e la spasticità. Alcuni pazienti sono asintomatici."},"nl":{"name":"Malformatie van Arnold-Chiari type I","synonyms":["Chiari-malformatie type 1","Chiari-malformatie type I","Malformatie van Arnold-Chiari type 1"],"definition":"Een malformatie van centraal zenuwstelsel, gekarakteriseerd door caudale verplaatsing van de cerebellaire tonsillen verder dan 5mm onder het foramen magnum met of zonder syringomyelie. De aanvang en ernst van de symptomen varieert, en deze omvatten suboccipitale hoofdpijn, nekpijn, vertigo, tinnitus, oculaire symptomen (diplopie, troebel zicht, fotofobie, nystagmus), tekenen van de onderste hersenzenuwen, cerebellaire ataxie, en spasticiteit. Sommige getroffen individuen kunnen asymptomatisch zijn."},"pt":{"name":"Malformação de Arnold-Chiari, tipo I","synonyms":["Malformação de Arnold-Chiari, tipo 1","Malformação de Chiari, tipo 1","Malformação de Chiari, tipo I"]},"pl":{"name":"Malformacja Arnolda i Chiariego typu I","synonyms":["Malformacja Arnolda i Chiariego typu 1","Malformacja Chiariego typu 1","Malformacja Chiariego typu I"],"definition":"*Malformacja Arnolda i Chiariego typu 1 I jest wadą ośrodkowego układu nerwowego, która charakteryzuje się ogonowym przemieszczeniem migdałków móżdżku na odległość większą niż 5 mm poniżej otworu wielkiego, z towarzyszącą (lub nie) jamistością rdzenia. Objawy są zróżnicowane pod względem nasilenia i czasu wystąpienia; obejmują podpotyliczny ból głowy, ból szyi, zawroty głowy, szum w uszach, objawy oczne (podwójne widzenie, niewyraźne widzenie, światłowstręt, oczopląs), objawy ze strony dolnych nerwów czaszkowych, ataksję móżdżkową i spastyczność. U niektórych osób przebieg jest bezobjawowy."},"cs":{"name":"Arnoldova-Chiariho malformace, typ I","synonyms":["Arnoldova-Chiariho malformace, typ 1","Chiariho malformace, typ 1","Chiariho malformace, typ I","Arnold-Chiariho malformace, typ I","Arnold-Chiariho malformace, typ 1"]},"uk":{"name":"Вада Арнольда-Кіарі, тип I","synonyms":["Вада Арнольда-Кіарі, тип 1","Вада Кіарі, тип 1","Вада розвитку Кіарі, тип I"],"definition":"A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic."},"zh":{"name":"Arnold-Chiari畸形Ⅰ型","synonyms":["Arnold-Chiari畸形1型"],"definition":"一种中枢神经系统畸形，其特征为小脑扁桃体在枕骨大孔下方超过5毫米的尾部移位，伴有或不伴有脊髓空洞症。症状的发作和严重程度各不相同，包括枕下头痛、颈部疼痛、眩晕、耳鸣、眼部症状(复视、视力模糊、光感、眼球震颤)、低位颅神经体征、小脑共济失调和痉挛。一些受影响的个体可能没有症状。"},"tr":{"name":"Arnold-Chiari malformasyonu tip I","synonyms":["Chiari malformasyonu tip 1","Chiari malformasyonu tip I","Arnold-Chiari malformasyon tip 1"]}},"xrefs":[{"source":"OMIM","code":"118420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q07.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA07.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1383121646"},{"source":"MONDO","code":"0007316","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0750929","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9233","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056944","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"DKK1","name":"dickkopf Wnt signaling pathway inhibitor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28513615[PMID]","hgnc":"2891","ensembl":"ENSG00000107984","omim":"605189","loci":["10q21.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-30","source":"10232534[PMID]_8988080[PMID]_16765829[PMID]_15449382[PMID]_7482254[PMID]_6668471[PMID]_1141921[PMID]","terms":[{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002331","label":"Recurrent paroxysmal headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040010","label":"Small posterior fossa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010558","label":"Abnormality of the clivus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010825","label":"Abnormality of the eleventh cranial nerve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010826","label":"Abnormality of the twelfth cranial nerve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009591","label":"Abnormality of the vestibulocochlear nerve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004608","label":"Anteriorly placed odontoid process","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012046","label":"Areflexia of upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004602","label":"Cervical C2/C3 vertebral fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001293","label":"Cranial nerve compression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007067","label":"Distal peripheral sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011389","label":"Functional abnormality of the inner ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025258","label":"Stiff neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001437","label":"Abnormality of the musculature of the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008615","label":"Adult onset sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005758","label":"Basilar impression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012366","label":"Basilar invagination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002512","label":"Brain stem compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}