{"orpha":1440,"name":"Ring chromosome 14 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 14","Ring chromosome 14"],"definition":"A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1440/","orphanet_url":"https://www.orpha.net/en/disease/detail/1440","names":{"fr":{"name":"Syndrome du chromosome 14 en anneau","synonyms":["Chromosome 14 en anneau"],"definition":"Le syndrome du chromosome 14 en anneau est caractérisé par un déficit intellectuel, des anomalies de la pigmentation cutanée et rétinienne, des crises d'épilepsie, et des traits dysmorphiques incluant occiput plat, épicanthus, fentes palpébrales anti-mongoloïdes, arête du nez plate, narines antéversées, cou court, et grandes oreilles bas implantées."},"de":{"name":"Ringchromosom-14-Syndrom","synonyms":["Ringchromosom 14"],"definition":"Eine seltene Chromosomenanomalie, die charakterisiert ist durch Intelligenzminderung, gestörte Retina- und Hautpigmentierung, zerebrale Krämpfe und eine Reihe von Dysmorphien: u.a. flacher Hinterkopf, Epikanthus, anti-mongoloide Lidachsen, flacher Nasenrücken, nach vorn gerichtete Nasenlöcher, kurzer Hals und große, tiefsitzende Ohren."},"es":{"name":"Síndrome del cromosoma 14 en anillo","synonyms":["Anillo 14","Cromosoma 14 en anillo"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por discapacidad intelectual, trastornos de la pigmentación de la piel y de la retina, crisis epilépticas y características dismórficas, incluyendo occipucio plano, pliegues epicánticos, fisuras palpebrales con inclinación descendente, puente nasal plano, fosas nasales antevertidas, cuello corto y orejas grandes y de implantación baja."},"it":{"name":"Cromosoma 14 ad anello"},"nl":{"name":"Ringchromosoom 14-syndroom","synonyms":["Ring 14","Ringchromosoom 14"],"definition":"Een zeldzame chromosomale anomalie, gekenmerkt door intellectuele achterstand, aandoeningen van pigmentatie van retina en huid, insulten, en dysmorfe kenmerken, waaronder plat achterhoofd, epicanthusplooien, schuin naar beneden hellende ogen, platte neusbrug, naar boven staande neusgaten, korte hals, en grote laagstaande oren."},"pt":{"name":"Síndrome de cromossoma 14 em anel","synonyms":["Anel do cromossoma 14"]},"pl":{"name":"Chromosom pierścieniowy 14","synonyms":["Ring 14","Ring chromosome 14"]},"cs":{"name":"Ring chromozom 14","synonyms":["Ring 14","Ring chromosome 14"]},"uk":{"name":"Синдром кільцевої хромосоми 14","synonyms":["Кільце 14","Кільцева хромосома 14"],"definition":"A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears."},"zh":{"name":"14号环状染色体综合征","synonyms":["14号环状染色体"]},"tr":{"name":"Halka kromozom 14 sendromu","synonyms":["Ring 14","Halka kromozomu 14"]}},"xrefs":[{"source":"OMIM","code":"616606","qualifier":"E","icd_relation":null,"validated":true},{"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":"1637412817"},{"source":"MONDO","code":"0014708","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930916","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"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":80.0,"area":"Worldwide","status":"Validated","source":"28399932[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28399932[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-07","source":"23159383[PMID]_22564756[PMID]_28399932[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025373","label":"Interictal EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}