{"orpha":1445,"name":"Ring chromosome 21 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1445/","orphanet_url":"https://www.orpha.net/en/disease/detail/1445","names":{"fr":{"name":"Syndrome du chromosome 21 en anneau","definition":"Anomalie autosomique rare caractérisée par des signes cliniques variables, le plus souvent un retard de croissance, un retard de développement, une déficience intellectuelle, une épilepsie, une microcéphalie, une petite taille, une dysmorphie, une hypogammaglobulinémie, une thrombocytopénie et des anomalies squelettiques non spécifiques (hémivertèbres, clinodactylie, syndactylie). Dans de rares cas, la maladie a été décrite chez des individus présentant un phénotype normal."},"de":{"name":"Ringchromosom 21-Syndrom","synonyms":["Ringchromosom 21"]},"es":{"name":"Síndrome del cromosoma 21 en anillo","synonyms":["Anillo 21","Cromosoma 21 en anillo"],"definition":"Es una anomalía autosómica caracterizada por manifestaciones clínicas variables que, por lo general, incluyen retraso del crecimiento y del desarrollo, discapacidad intelectual, epilepsia, microcefalia, talla baja, características dismórficas, hipogammaglobulinemia, trombocitopenia y anomalías esqueléticas inespecíficas (hemivértebras, clinodactilia, sindactilia). En algunos casos, se ha descrito en individuos fenotípicamente normales."},"it":{"name":"Cromosoma 21 ad anello","definition":"Il cromosoma 21 ad anello è un'anomalia cromosomica autosomica; il quadro clinico è variabile e prevalentemente caratterizzato da ritardo della crescita e dello sviluppo, disabilità intellettiva, epilessia, microcefalia, bassa statura, dismorfismi, ipogammaglobulinemia, trombocitopenia ed anomalie scheletriche aspecifiche (emivertebre, clinodattilia, sindattilia). Raramente l'anomalia è stata descritta in soggetti con fenotipo normale."},"nl":{"name":"Ringchromosoom 21-syndroom","synonyms":["Ring 21","Ringchromosoom 21"],"definition":"Ringchromosoom 21 syndroom is een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, waaronder meestal groeiretardatie, ontwikkelingsachterstand, intellectuele achterstand, epilepsie, microcefalie, kleine gestalte, dysmorfe kenmerken, hypogammaglobulinemie, trombocytopenie en niet-specifieke skeletanomalieën (hemivertebrae, clinodactylie, syndactylie). In zeldzame gevallen werd het beschreven in fenotypisch normale individuen."},"pt":{"name":"Síndrome de cromossoma 21 em anel","synonyms":["Anel do cromossoma 21"]},"pl":{"name":"Chromosom pierścieniowy 21","definition":"*Chromosom pierścieniowy 21 jest aberracją autosomu, która charakteryzuje się zróżnicowanym obrazem klinicznym, najczęściej obejmującym opóźnienie wzrastania, opóźnienie rozwoju, niepełnosprawność intelektualną, padaczkę, małogłowie, niski wzrost, cechy dysmorficzne, hipogammaglobulinemię, trombocytopenię i niespecyficzne wady szkieletowe (półkręgi, klinodaktylia). W rzadkich przypadkach zespół ten opisywano u osób z prawidłowym fenotypem."},"cs":{"name":"Ring chromozom 21"},"uk":{"name":"Синдром кільцевої хромосоми 21","definition":"Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals."},"zh":{"name":"环状21号染色体综合征","synonyms":["环状21号染色体"]},"tr":{"name":"Halka kromozom 21 sendromu","synonyms":["Halka 21","Halka kromozomu 21","Kromozom 21 ek"]}},"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":"1211029320"},{"source":"MONDO","code":"0015437","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537109","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265487","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6083","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":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-08","source":"21595005[PMID]_29492108[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030039","label":"Fused thoracic vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004283","label":"Narrow palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008467","label":"Thoracic hemivertebrae","frequency":"Occasional (29-5%)","criteria":null}]}}