{"orpha":1441,"name":"Ring chromosome 17 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 17","Ring chromosome 17"],"definition":"A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1441/","orphanet_url":"https://www.orpha.net/en/disease/detail/1441","names":{"fr":{"name":"Syndrome du chromosome 17 en anneau","synonyms":["Chromosome 17 en anneau"],"definition":"Syndrome d'anomalie chromosomique rare dû à la délétion partielle du chromosome 17, caractérisé par des manifestations très variables allant d'un phénotype sévère à type de lissencéphalie et de déficience intellectuelle sévère à un phénotype plus léger à type de petite taille, de microcéphalie, de déficience intellectuelle, de convulsions (potentiellement pharmacorésistantes), de taches café-au-lait, de taches rétiniennes et de légère dysmorphie faciale, en fonction de la présence ou de l'absence de la région critique du syndrome de Miller-Dieker."},"de":{"name":"Ringchromosom 17-Syndrom","synonyms":["Ringchromosom 17"]},"es":{"name":"Síndrome del cromosoma 17 en anillo","synonyms":["Anillo 17","Cromosoma 17 en anillo"],"definition":"Es una disostosis acrofacial poco frecuente caracterizada por inteligencia normal, talla baja y disostosis acrofacial leve (hipoplasia malar, micrognatia y membranas interdigitales con acortamiento del cuarto metacarpiano) asociada a oligodoncia, paladar normal u ojival, aplasia cutis verticis con pili torti, sindactilia cutánea leve de los dedos 2-5 y labio hendido unilateralmente. Las características son similares a las observadas en el síndrome de Zlotogora-Ogur, aunque este último no muestra signos de disostosis acrofacial. No ha habido más casos descritos en la literatura desde 1997."},"it":{"name":"Cromosoma 17 ad anello","definition":"La sindrome del cromosoma 17 ad anello è un'anomalia cromosomica rara, causata dalla delezione parziale del cromosoma 17. È caratterizzata da un quadro clinico molto variabile, che comprende un fenotipo grave con lissencefalia e disabilità intellettiva profonda, ed un fenotipo meno grave, con bassa statura, microcefalia, disabilità intellettiva, crisi epilettiche (che possono essere farmaco-resistenti), macchie caffè-latte, retina maculata e dismorfismi facciali sfumati, in rapporto alla presenza o meno della regione critica della sindrome di Miller-Dieker."},"nl":{"name":"Ringchromosoom 17-syndroom","synonyms":["Ringchromosoom 17","Ring 17"],"definition":"Ringchromosoom 17 syndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van chromosoom 17, en wordt gekarakteriseerd door variabele manifestaties, gaande van een ernstig fenotype dat zich presenteert met lissencefalie en ernstige intellectuele achterstand tot een milder fenotype met onder meer kleine gestalte, microcefalie, intellectuele achterstand, insulten (die mogelijk farmacoresistent zijn), café-au-lait vlekken, retinale vlekken en geringe faciale dysmorfie, afhankelijk van de aan- of afwezigheid van de kritieke regio van Miller-Dieker."},"pt":{"name":"Síndrome de cromossoma 17 em anel","synonyms":["Cromossoma 17 em anel"]},"pl":{"name":"Chromosom pierścieniowy 17","synonyms":["Ring 17","Ring chromosome 17"]},"cs":{"name":"Ring chromozom 17","synonyms":["Ring 17","Ring chromosome 17"]},"uk":{"name":"Синдром кільцевої хромосоми 17","synonyms":["Кільце 17","Кільцева хромосома 17"],"definition":"A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region."},"zh":{"name":"17染色体环状染色体综合征","synonyms":["17号环状染色体"]},"tr":{"name":"Halka kromozom 17 sendromu","synonyms":["Halka 17","Halka kromozomu 17"]}},"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":"1816838419"},{"source":"MONDO","code":"0015433","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538046","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795863","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4724","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":["Not applicable","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"24393457[PMID]_25635406[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24393457[PMID]_25635406[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-06-06","source":"29456482[PMID]_37790920[PMID]_39513527[PMID]","terms":[{"hpo":"HP:0000957","label":"Cafe-au-lait spot","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:0012045","label":"Retinal flecks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}