{"orpha":1437,"name":"Ring chromosome 1 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 1","Ring chromosome 1","r(1) syndrome"],"definition":"Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1437/","orphanet_url":"https://www.orpha.net/en/disease/detail/1437","names":{"fr":{"name":"Syndrome du chromosome 1 en anneau","synonyms":["Chromosome 1 en anneau","Syndrome r(1)"],"definition":"Anomalie des autosomes caractérisée par des signes cliniques variables, le plus souvent un retard de croissance intra-utérin et post-natal important, un retard de développement, une déficience intellectuelle, une microcéphalie et une dysmorphie faciale. Certaines caractéristiques cliniques moins fréquentes sont la dysgénésie du corps calleux, la communication interauriculaire, les pieds bots et la clinodactylie."},"de":{"name":"Ringchromosom-1-Syndrom","synonyms":["Ringchromosom 1"]},"es":{"name":"Síndrome del cromosoma 1 en anillo","synonyms":["Anillo 1","Cromosoma 1 en anillo","Síndrome r(1)"],"definition":"Es una anomalía autosómica caracterizada por manifestaciones clínicas variables incluyendo, con mayor frecuencia, un fallo importante del crecimiento intrauterino y postnatal, retraso del desarrollo, discapacidad intelectual, microcefalia y características faciales dismórficas. Algunas características clínicas menos frecuentes son disgenesia del cuerpo calloso, comunicación interauricular, pies convexos y clinodactilia."},"it":{"name":"Cromosoma 1 ad anello","definition":"Il cromosoma 1 ad anello è un'anomalia cromosomica autosomica associata ad un quadro clinico caratterizzato prevalentemente da spiccato ritardo della crescita pre- e postnatale, ritardo dello sviluppo, disabilità intellettiva, microcefalia e dismorfismi facciali. Segni clinici meno frequenti sono la disgenesia del corpo calloso, il difetto del setto interatriale, i piedi ''a piccozza'' e la clinodattilia."},"nl":{"name":"Ringchromosoom 1-syndroom","synonyms":["Ring 1","Ringchromosoom 1","r(1)-syndroom"],"definition":"Ringchromosoom 1 syndroom is een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, waaronder meestal significante intra-uterien en postnataal groeifalen, ontwikkelingsachterstand, intellectuele achterstand, microcefalie, en dysmorfe gelaatskenmerken. Minder frequent voorkomende klinische kenmerken zijn dysgenesie van het corpus callosum, atriumseptumdefect, verticale talus en clinodactylie."},"pt":{"name":"Síndrome do cromossoma 1 em anel","synonyms":["Anel do cromossoma 1"]},"pl":{"name":"Chromosom pierścieniowy 1","synonyms":["Ring 1","Ring chromosome 1","r(1) syndrome"],"definition":"*Chromosom pierścieniowy 1 jest aberracją autosomu, która charakteryzuje się zróżnicowanym obrazem klinicznym, najczęściej obejmującym znaczące zaburzenia wzrastania wewnątrzmacicznego i postnatalnego, opóźnienie rozwoju, niepełnosprawność intelektualną, małogłowie i dysmorficzne cechy twarzy. Rzadziej występuje dysgenezja ciała modzelowatego, ubytek przegrody międzyprzedsionkowej, stopy szpotawe i klinodaktylia."},"cs":{"name":"Ring chromozom 1","synonyms":["Ring 1","Ring chromosome 1","r(1) syndrome"]},"uk":{"name":"Синдром кільцевої хромосоми 1","synonyms":["синдром r(1)","Кільце 1","Кільцева хромосома 1"],"definition":"Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly."},"zh":{"name":"环状1号染色体综合征","synonyms":["r(1)综合征"]},"tr":{"name":"Halka kromozom 1 sendromu","synonyms":["Halka 1","r(1) sendromu","Halka kromozomu 1"]}},"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":"1617625967"},{"source":"MONDO","code":"0015430","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265395","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1320","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":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"17710876[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17710876[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}