{"orpha":1447,"name":"Ring chromosome 4 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Syndrome r(4)","r(4) syndrome","Ring 4","Ring chromosome 4"],"definition":"Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1447/","orphanet_url":"https://www.orpha.net/en/disease/detail/1447","names":{"fr":{"name":"Syndrome du chromosome 4 en anneau","synonyms":["Chromosome 4 en anneau"],"definition":"Anomalie des autosomes caractérisée par des manifestations cliniques variables, comprenant le plus souvent un retard de croissance intra-utérin et post-natal significatif, un retard de développement, une déficience intellectuelle, une microcéphalie et une dysmorphie faciale. Parmi les manifestations moins fréquentes figurent une fente labiale et/ou palatine et des anomalies des systèmes cardiovasculaire, gastro-intestinal et génito-urinaire."},"de":{"name":"Ringchromosom-4-Syndrom","synonyms":["Ringchromosom 4"]},"es":{"name":"Síndrome del cromosoma 4 en anillo","synonyms":["Anillo 4","Cromosoma 4 en anillo","Síndrome r(4)"],"definition":"El síndrome del cromosoma 4 en anillo, es una anomalía autosómica caracterizada por manifestaciones clínicas variables que, por lo general, incluyen retraso significativo del crecimiento intrauterino y postnatal, retraso del desarrollo, discapacidad intelectual, microcefalia y características faciales dismórficas. Algunas características menos frecuentes son labio leporino y/o paladar hendido, así como anomalías congénitas del sistema cardiovascular, gastrointestinal y genitourinario."},"it":{"name":"Cromosoma 4 ad anello","definition":"Il cromosoma 4 ad anello è un'anomalia di un autosoma; il quadro clinico è variabile; è caratterizzato prevalentemente da un significativo ritardo della crescita pre- e postnatale, ritardo dello sviluppo, disabilità intellettiva, microcefalia e dismorfismi facciali. Sono meno comuni la labio/palatoschisi e le anomalie cardiovascolari, gastrointestinali e genito-urinarie congenite."},"nl":{"name":"Ringchromosoom 4-syndroom","synonyms":["Ring 4","Ringchromosoom 4","r(4)-syndroom"],"definition":"Ringchromosoom 4 syndroom is een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, waaronder meestal significante intra-uteriene en postnatale groeiretardatie, ontwikkelingsachterstand, intellectuele achterstand, microcefalie, en dysmorfe gelaatskenmerken. Enkele minder frequente kenmerken zijn gespleten lip en/of gespleten verhemelte, en congenitale cardiovasculaire, gastro-intestinale en urogenitale anomalieën."},"pt":{"name":"Síndrome do cromossoma 4 em anel","synonyms":["Anel do cromossoma 4"]},"pl":{"name":"Chromosom pierścieniowy 4","synonyms":["Syndrome r(4)","r(4) syndrome","Ring 4","Ring chromosome 4"],"definition":"*Chromosom pierścieniowy 4 jest aberracją autosomu, która charakteryzuje się zróżnicowanym obrazem klinicznym i najczęściej obejmuje znaczne opóźnienie wzrastania zarówno wewnątrzmacicznego, jak i pourodzeniowego, opóźnienie rozwoju, niepełnosprawność intelektualną, małogłowie i dysmorficzne cechy twarzy. Do rzadszych objawów należą rozszczep wargi i/lub podniebienia, wrodzone wady układu sercowo-naczyniowego, pokarmowego i moczowo-płciowego."},"cs":{"name":"Ring chromozom 4","synonyms":["Syndrome r(4)","r(4) syndrome","Ring 4","Ring chromosome 4"]},"uk":{"name":"Синдром кільцевої хромосоми 4","synonyms":["синдром r(4)","Кільце 4","Кільцева хромосома 4","Синдром r(4)"],"definition":"Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies."},"zh":{"name":"环状4号染色体综合征","synonyms":["r(4)综合征"]},"tr":{"name":"Halka kromozom 4 sendromu","synonyms":["Halka 4","Sendrom r (4)","r(4) sendromu","Halka kromozomu 4"]}},"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":"1390778879"},{"source":"MONDO","code":"0015439","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265407","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1339","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":20.0,"area":"Worldwide","status":"Validated","source":"27610251[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27610251[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null}]}}