{"orpha":1438,"name":"Ring chromosome 10 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 10","Ring chromosome 10"],"definition":"An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1438/","orphanet_url":"https://www.orpha.net/en/disease/detail/1438","names":{"fr":{"name":"Syndrome du chromosome 10 en anneau","synonyms":["Chromosome 10 en anneau"],"definition":"Anomalie des autosomes caractérisée par des signes cliniques variables, selon la taille et l'emplacement précis des segments chromosomiques supprimés. La plupart des patients présentent un retard de développement, une déficience intellectuelle, un retard de croissance, une microcéphalie, une clinodactylie et une dysmorphie. Des cardiopathies congénitales et des anomalies génitourinaires ont été rapportées dans certains cas."},"de":{"name":"Ringchromosom-10-Syndrom","synonyms":["Ringchromosom 10"],"definition":"Eine autosomale Chromosomenanomalie, die durch unterschiedliche klinische Merkmale gekennzeichnet ist, die abhängig sind von der Größe und der genauen Lage der deletierten Chromosomensegmente. Die meisten Patienten zeigen Entwicklungsverzögerung, Intelligenzminderung, Wachstumsretardierung, Mikrozephalie, Klinodaktylie und dysmorphe Merkmale. In einigen Fällen wurden angeborene Herzfehler und Urogenitalanomalien berichtet."},"es":{"name":"Síndrome del cromosoma 10 en anillo","synonyms":["Anillo 10","Cromosoma 10 en anillo"],"definition":"Es una anomalía autosómica caracterizada por hallazgos clínicos variables, dependientes del tamaño y la localización exacta de los segmentos cromosómicos delecionados. La mayoría de los pacientes presenta retraso del desarrollo, discapacidad intelectual, retraso del crecimiento, microcefalia, clinodactilia y rasgos dismórficos. En algunos casos se han descrito cardiopatías congénitas y anomalías genitourinarias."},"it":{"name":"Sindrome del cromosoma 10 ad anello","synonyms":["Cromosoma 10 ad anello"],"definition":"È un'anomalia autosomica, caratterizzata da un quadro clinico variabile, che dipende dalle dimensioni e dalla localizzazione dei segmenti cromosomici deleti. La maggior parte dei pazienti presenta ritardo dello sviluppo, disabilità intellettiva, ritardo della crescita, microcefalia, clinodattilia e dismorfismi. Alcuni pazienti presentano anche cardiopatie congenite ed anomalie genitourinarie."},"nl":{"name":"Ringchromosoom 10-syndroom","synonyms":["Ring 10","Ringchromosoom 10"],"definition":"Een autosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken, afhankelijk van de omvang en de precieze locatie van verwijderde chromosoomsegmenten. De meeste patiënten vertonen ontwikkelingsachterstand, intellectuele beperking, groeiretardatie, microcefalie, clinodactylie, en dysmorfe kenmerken. In sommige gevallen werden congenitale hartziekte en genito-urinaire anomalieën gerapporteerd."},"pt":{"name":"Síndrome do cromossoma 10 em anel","synonyms":["Anel do cromossoma 10"]},"pl":{"name":"Chromosom pierścieniowy 10","synonyms":["Ring 10","Ring chromosome 10"]},"cs":{"name":"Ring chromozom 10","synonyms":["Ring 10","Ring chromosome 10"]},"uk":{"name":"Синдром кільцевої хромосоми 10","synonyms":["Кільце 10","Кільцева хромосома 10"],"definition":"An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases."},"zh":{"name":"环状10号染色体综合征","synonyms":["环状10号染色体"]},"tr":{"name":"Halka kromozom 10 sendromu","synonyms":["Halka 10","Halka kromozomu 10"]}},"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":"2022495787"},{"source":"MONDO","code":"0015431","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538086","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265438","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1322","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":363203,"name":"Ring chromosome syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"23247912[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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}