{"orpha":96175,"name":"Ring chromosome 11 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["RC11","Ring 11","Ring chromosome 11","r(11) syndrome"],"definition":"A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96175/","orphanet_url":"https://www.orpha.net/en/disease/detail/96175","names":{"fr":{"name":"Syndrome du chromosome 11 en anneau","synonyms":["Chromosome 11 en anneau","Syndrome r(11)"],"definition":"Anomalie des autosomes caractérisée par des manifestations cliniques variables, dont un retard de croissance précoce et une petite taille, une microcéphalie, un retard de développement, un certain degré de certaine déficience intellectuelle, une dysmorphie faciale et des taches café-au-lait. Dans certains cas, une maladie cardiaque congénitale et des anomalies endocriniennes ont également été rapportées."},"de":{"name":"Ringchromosom-11-Syndrom","synonyms":["RC11","Ringchromosom 11","r(11)-Syndrom"],"definition":"Eine seltene autosomale Anomalie, die durch variable klinische Merkmale gekennzeichnet ist, darunter früh einsetzende Wachstumsverzögerung und Kleinwuchs, Mikrozephalie, Entwicklungsverzögerung, eine gewisse Intelligenzminderung, Gesichtsdysmorphien und Café-au-lait-Flecken. In einigen Fällen wurde über angeborene Herzfehler und endokrine Anomalien berichtet."},"es":{"name":"Síndrome del cromosoma 11 en anillo","synonyms":["Anillo 11","Cromosoma 11 en anillo","RC11","Síndrome r(11)"],"definition":"Es una anomalía autosómica caracterizada por signos clínicos variables, que incluyen retraso temprano del crecimiento y talla baja, microcefalia, retraso del desarrollo, cierto grado de discapacidad intelectual, dismorfia facial y manchas café con leche. En algunos casos, se han descrito cardiopatías congénitas y anomalías endocrinas."},"it":{"name":"Sindrome del cromosoma 11 ad anello","definition":"La sindrome del cromosoma 11 ad anello è un'anomalia di un autosoma, caratterizzata da un quadro clinico variabile, che comprende il ritardo precoce della crescita, la bassa statura, la microcefalia, il ritardo dello sviluppo, la disabilità intellettiva di grado variabile, i dismorfismi facciali e le macchie caffè-latte. Alcuni pazienti presentano cardiopatie congenite ed endocrinopatie."},"nl":{"name":"Ringchromosoom 11-syndroom","synonyms":["RC11","Ring 11","Ringchromosoom 11","r(11)-syndroom"],"definition":"Ringchromosoom 11 syndroom is een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, waaronder vroege groeiretardatie en kleine gestalte, microcefalie, ontwikkelingsachterstand, een bepaalde mate van intellectuele achterstand, faciale dysmorfie en café-au-lait vlekken. In sommige gevallen werden congenitale hartziekte en endocriene afwijkingen gerapporteerd."},"pt":{"name":"Cromossoma 11 em anel"},"pl":{"name":"Chromosom pierścieniowy 11","synonyms":["RC11","Ring 11","Ring chromosome 11","r(11) syndrome"],"definition":"*Chromosom pierścieniowy 11 jest aberracją autosomu, która charakteryzuje się zmiennym spektrum cech klinicznych, w tym wczesnym opóźnieniem wzrastania i niskim wzrostem, małogłowiem, opóźnieniem rozwoju, niepełnosprawnością intelektualną określonego stopnia, dysmorfią twarzy i plamami typu café au lait (kawy z mlekiem). U niektórych chorych opisywano wrodzone wady serca oraz serca i zaburzenia endokrynologiczne."},"cs":{"name":"Ring chromozom 11","synonyms":["Kruhový chromozom 11"]},"uk":{"name":"Синдром кільцевої хромосоми 11","synonyms":["r(11) синдром","RC11","Кільце 11","Кільцева хромосома 11"],"definition":"A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported."},"zh":{"name":"11号环状染色体综合征","synonyms":["r(11)综合征"],"definition":"11号环状染色体综合征是一种常染色体异常，临床表现多样，包括早期生长迟缓和身材矮小、小头畸形、发育迟缓、一定程度的智力障碍、面部畸形和牛奶咖啡斑。在有些病例中，也报道了先天性心脏病和内分泌异常。"},"tr":{"name":"Halka kromozom 11 sendromu","synonyms":["RC11","Halka 11","r (11) sendromu","Halka kromozomu 11"]}},"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":"1473985850"},{"source":"MONDO","code":"0019906","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265444","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10846","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","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"26576288[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26576288[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-18","source":"22975011[PMID]_26576288[PMID]","terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005590","label":"Spotty hypopigmentation","frequency":"Occasional (29-5%)","criteria":null}]}}