{"orpha":96173,"name":"Ring chromosome 9 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 9","Ring chromosome 9"],"definition":"A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96173/","orphanet_url":"https://www.orpha.net/en/disease/detail/96173","names":{"fr":{"name":"Syndrome de chromosome 9 en anneau","synonyms":["Chromosome 9 en anneau"],"definition":"Anomalie des autosomes caractérisée par des caractéristiques cliniques variables, le plus souvent par un retard de développement, un certain degré de déficience intellectuelle, une dysmorphie faciale, une microcéphalie, des anomalies cardiaques congénitales, ainsi que des anomalies variables des organes génitaux, des membres et du squelette."},"de":{"name":"Ringchromosom-9-Syndrom","synonyms":["Ringchromosom 9"]},"es":{"name":"Síndrome del cromosoma 9 en anillo","synonyms":["Anillo 9","Cromosoma 9 en anillo"],"definition":"Es una anomalía autosómica caracterizada por características clínicas variables, siendo las más comunes retraso del desarrollo, cierto grado de discapacidad intelectual, dismorfia facial, microcefalia, anomalías cardíacas congénitas y anomalías genitales, de extremidades y esqueléticas variables."},"it":{"name":"Sindrome del cromosoma 9 ad anello","definition":"La sindrome del cromosoma 9 ad anello è un'anomalia di un autosoma, caratterizzata da un quadro clinico variabile, che di solito comprende il ritardo dello sviluppo, la disabilità intellettiva di grado variabile, i dismorfismi facciali, la microcefalia, le cardiopatie congenite e anomalie variabili dello scheletro, dei genitali e degli arti."},"nl":{"name":"Ringchromosoom 9-syndroom","synonyms":["Ring 9","Ringchromosoom 9"],"definition":"Ringchromosoom 9 syndroom is een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, waaronder meestal ontwikkelingsachterstand, een bepaalde mate van intellectuele achterstand, faciale dysmorfie, microcefalie, congenitale hartanomalieën, en variabele anomalieën van de genitaliën, de ledematen en het skelet."},"pt":{"name":"Cromossoma 9 em anel"},"pl":{"name":"Chromosom pierścieniowy 9","synonyms":["Ring 9","Ring chromosome 9"],"definition":"*Chromosom pierścieniowy 9 jest aberracją autosomu, która charakteryzuje się zmiennym obrazem klinicznym i najczęściej obejmuje opóźnienie rozwoju, niepełnosprawność intelektualną, dysmorfię twarzy, małogłowie, wrodzone wady serca oraz różne wady narządów płciowych, kończyn i układu szkieletowego."},"cs":{"name":"Ring chromozom 9","synonyms":["Kruhový chromozom 9"]},"uk":{"name":"Синдром кільцевої хромосоми 9","synonyms":["Кільце 9","Кільцева хромосома 9"],"definition":"A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies."},"zh":{"name":"9号环状染色体综合征","synonyms":["9号环状染色体"],"definition":"9号环状染色体综合征是一种常染色体异常，临床表现多样，最常见的包括发育迟缓、一定程度的智力障碍、面部畸形、小头畸形、先天性心脏异常，以及可变的生殖器官、肢体和骨骼异常。"},"tr":{"name":"Halka kromozom 9 sendromu","synonyms":["Halka 9","Halka kromozomu 9"]}},"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":"1769235926"},{"source":"MONDO","code":"0019905","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265430","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1348","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":"Cases/families","qualification":"Case(s)","class":null,"value":31.0,"area":"Worldwide","status":"Validated","source":"25722017[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25722017[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-05","source":"16158426[PMID]_23633410[PMID]_27222354[PMID]_17526969[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","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:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}