{"orpha":1442,"name":"Ring chromosome 18 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 18","Ring chromosome 18"],"definition":"A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1442/","orphanet_url":"https://www.orpha.net/en/disease/detail/1442","names":{"fr":{"name":"Syndrome du chromosome 18 en anneau","synonyms":["Chromosome 18 en anneau"],"definition":"Anomalie des autosomes caractérisée par des signes cliniques variables, dont les plus fréquents sont une hypotonie, des difficultés respiratoires et d'alimentation chez les nouveau-nés, une microcéphalie, un retard global de développement et une déficience intellectuelle, un déficit en hormone de croissance, une hypothyroïdie, une perte auditive, une atrésie du conduit auditif, une dysmorphie faciale et des troubles du comportement caractéristiques."},"de":{"name":"Ringchromosom-18-Syndrom","synonyms":["Ringchromosom 18"]},"es":{"name":"Síndrome del cromosoma 18 en anillo","synonyms":["Anillo 18","Cromosoma 18 en anillo"],"definition":"Es una anomalía autosómica caracterizada por manifestaciones clínicas variables que incluyen, más comúnmente, hipotonía, dificultades de alimentación neonatal y respiratorias, microcefalia, retraso global del desarrollo y discapacidad intelectual, deficiencia de hormona del crecimiento, hipotiroidismo, pérdida auditiva, atresia auditiva, rasgos faciales dismórficos y características conductuales."},"it":{"name":"Cromosoma 18 ad anello","definition":"Il cromosoma 18 ad anello è un'anomalia cromosomica rara; il quadro clinico è variabile ed è caratterizzato prevalentemente da ipotonia, difficoltà respiratorie e di alimentazione nei neonati, microcefalia, ritardo dello sviluppo globale, disabilità intellettiva, deficit dell'ormone della crescita, ipotiroidismo, sordità, atresia dell'orecchio, dismorfismi facciali e problemi comportamentali."},"nl":{"name":"Ringchromosoom 18-syndroom","synonyms":["Ring 18","Ringchromosoom 18"],"definition":"Ringchromosoom 18 syndroom is een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, waaronder meestal hypotonie, neonatale voedings- en ademhalingsproblemen, microcefalie, algehele ontwikkelingsachterstand en intellectuele achterstand, deficiëntie van groeihormoon, hypothyreoïdie, gehoorverlies, atresie van de gehoorgang, dysmorfe gelaatskenmerken, en typische gedragskenmerken."},"pt":{"name":"Síndrome do cromossoma 18 em anel","synonyms":["Anel do cromossoma 18"]},"pl":{"name":"Zespół pierścieniowego chromosomu 18","synonyms":["Ring 18","Ring chromosome 18"],"definition":"*Zespół pierścieniowego chromosomu 18 jest aberracją autosomu, która charakteryzuje się zróżnicowanym obrazem klinicznym i najczęściej obejmuje hipotonię, trudności w karmieniu i problemy oddechowe noworodków, małogłowie, całościowe opóźnienie rozwoju i niepełnosprawność intelektualną, niedobór hormonu wzrostu, niedoczynność tarczycy, niedosłuch, atrezję przewodów słuchowych, dysmorficzne rysy twarzy i charakterystyczne zaburzenia zachowania."},"cs":{"name":"Ring chromozom 18","synonyms":["Ring 18","Ring chromosome 18"]},"uk":{"name":"Синдром кільцевої хромосоми 18","synonyms":["Кільце 18","Кільцева хромосома 18"],"definition":"A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics."},"zh":{"name":"18号环状染色体综合征","synonyms":["18号环状染色体"]},"tr":{"name":"Halka kromozom 18 sendromu","synonyms":["Halka 18","Halka kromozomu 18"]}},"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":"265033908"},{"source":"MONDO","code":"0015434","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538304","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265475","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6077","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":70.0,"area":"Worldwide","status":"Validated","source":"21333764[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-11-25","source":"25635256[PMID]_33829328[PMID]","terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","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:0000812","label":"Abnormal internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","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:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}