{"orpha":1446,"name":"Ring chromosome 22 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 22","Ring chromosome 22","r(22) syndrome"],"definition":"A rare autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1446/","orphanet_url":"https://www.orpha.net/en/disease/detail/1446","names":{"fr":{"name":"Syndrome du chromosome 22 en anneau","synonyms":["Chromosome 22 en anneau","Syndrome r(22)"],"definition":"Forme de syndrome d'hypotonie-cystinurie type 1 caractérisée par une déficience intellectuelle légère à modérée en plus du phénotype classique du syndrome d'hypotonie-cystinurie (cystinurie type 1, hypotonie généralisée, difficultés à s'alimenter, retard de croissance et dysmorphie faciale mineure)."},"de":{"name":"Ringchromosom-22-Syndrom","synonyms":["Ringchromosom 22"]},"es":{"name":"Síndrome del cromosoma 22 en anillo","synonyms":["Anillo 22","Cromosoma 22 en anillo","Síndrome r(22)"],"definition":"Es una anomalía autosómica caracterizada por manifestaciones clínicas variables que, por lo general, incluyen retraso global del desarrollo, hipotonía, retraso del crecimiento con microcefalia, discapacidad intelectual con retraso grave del habla, convulsiones o EEG anómalo, trastornos del espectro autista y otras características conductuales."},"it":{"name":"Cromosoma 22 ad anello","definition":"Il cromosoma 22 ad anello è un'anomalia cromosomica autosomica; il quadro clinico è variabile, caratterizzato prevalentemente da ritardo dello sviluppo globale, ipotonia, ritardo della crescita con microcefalia, disabilità intellettiva con grave ritardo del linguaggio, crisi epilettiche o anomalie all'EEG, disturbo dello spettro autistico ed altri problemi comportamentali."},"nl":{"name":"Ringchromosoom 22-syndroom","synonyms":["Ring 22","Ringchromosoom 22","r(22)-syndroom"],"definition":"Ringchromosoom 22-syndroom is een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, waaronder meestal algehele ontwikkelingsachterstand, hypotonie, groeiretardatie met microcefalie, intellectuele achterstand met ernstige spraakachterstand, insulten of abnormaal EEG, autismespectrumstoornis en andere gedragskenmerken."},"pt":{"name":"Síndrome do cromossoma 22 em anel","synonyms":["Anel do cromossoma 22"]},"pl":{"name":"Chromosom pierścieniowy 22","synonyms":["Ring 22","Ring chromosome 22","r(22) syndrome"],"definition":"*Chromosom pierścieniowy 22 jest aberracją autosomu, która charakteryzuje się zróżnicowanym obrazem klinicznym, najczęściej obejmującym całościowe opóźnienie rozwoju, hipotonię, opóźnienie wzrastania z małogłowiem, niepełnosprawność intelektualną ze ciężkim opóźnieniem mowy, drgawki lub nieprawidłowy zapis EEG, zaburzenia ze spektrum autyzmu i inne zaburzenia zachowania."},"cs":{"name":"Ring chromozom 22","synonyms":["Ring 22","Ring chromosome 22","r(22) syndrome"]},"uk":{"name":"Синдром кільцевої хромосоми 22","synonyms":["Синдром r(22)","Кільце 22","Кільцева хромосома 22"],"definition":"A rare autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics."},"zh":{"name":"环染色体22综合征","synonyms":["r(22)综合征"]},"tr":{"name":"Halka kromozom 22 sendromu","synonyms":["Halka 22","r(22) sendromu","Halka kromozomu 22"]}},"xrefs":[{"source":"ICD-10","code":"Q93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1755616835"},{"source":"MONDO","code":"0015438","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536795","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265492","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1336","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363203,"name":"Ring chromosome syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ISBN:978-3-8055-9280-2[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN:978-3-8055-9280-2[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-04","source":"26043508[PMID]_25286802[PMID]_24700634[PMID]_21271667[PMID]_20709628[PMID]_19940762[PMID]_16059935[PMID]_15372517[PMID]_15305353[PMID]_12752574[PMID]_10706359[PMID]_10204853[PMID]_1424240[PMID]_519902[PMID]_912941[PMID]_4697858[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000719","label":"Inappropriate behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001067","label":"Neurofibromas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null}]}}