{"orpha":96176,"name":"Ring chromosome 13 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 13","Ring chromosome 13"],"definition":"A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96176/","orphanet_url":"https://www.orpha.net/en/disease/detail/96176","names":{"fr":{"name":"Syndrome du chromosome 13 en anneau","synonyms":["Chromosome 13 en anneau"],"definition":"Anomalie chromosomique rare du chromosome 13 caractérisée par un phénotype très variable (de léger à sévère) se manifestant principalement par un retard de croissance intra-utérin, un retard de développement, une petite taille, un déficit intellectuel modéré à sévère, une microcéphalie, une dysmorphie faciale (fentes palpébrales obliques en haut et en dehors, hypertélorisme, oreilles anormales, large pont nasal, palais ogival, micrognathie, petite bouche, lèvres fines), ainsi que des anomalies des mains, des pieds et génitales. Les signes additionnels incluent des troubles du comportement, des troubles de l'audition et de la parole, des cardiopathies congénitales, des malformations cérébrales et une atrésie anale."},"de":{"name":"Ringchromosom-13-Syndrom","synonyms":["Ringchromosom 13"],"definition":"Eine seltene Chromosomenanomalie des Chromosoms 13 mit sehr variablen Phänotyp (von leicht bis schwer). Zu den hauptsächlichen Kennzeichen gehören intrauterine Wachstumsretardierung, Entwicklungsverzögerung, Kleinwuchs, mäßige bis schwere Intelligenzminderung, Mikrozephalie, Gesichtsdysmorphismus (hochstehende Lidspalten, Hypelorismus, abnorme Ohren, breiter Nasenrücken, hochgewölbter Gaumen, Mikrognathie und dünne Lippen), Hand- und Fußanomalien sowie genitale Anomalien. Weitere beschriebene Merkmale sind Verhaltensprobleme, Hör- und Sprachstörungen, angeborene Herzfehler, zerebrale Fehlbildungen und Analatresie."},"es":{"name":"Síndrome del cromosoma 13 en anillo","synonyms":["Anillo 13","Cromosoma 13 en anillo"],"definition":"Es una anomalía cromosómica del cromosoma 13 caracterizada por un fenotipo altamente variable (oscilando de leve a grave) caracterizado principalmente por un retraso del crecimiento intrauterino, retraso del desarrollo, tall baja, discapacidad intelectual de moderada a grave, microcefalia, dismorfia facial (como fisuras palpebrales ascendentes, hipertelorismo, orejas anómalas, puente nasal ancho, paladar ojival, micrognatia, boca pequeña y labios delgados), anomalías de manos y pies y anomalías genitales. Otros rasgos adicionales descritos incluyen trastornos de conducta, trastornos auditivos y del lenguaje, anomalías cardíacas congénitas, malformaciones cerebrales y atresia anal."},"it":{"name":"Cromosoma 13 ad anello","definition":"Il cromosoma 13 ad anello è un'anomalia strutturale del cromosoma 13, associata ad un quadro clinico molto variabile (lieve-grave); i principali segni clinici sono il ritardo della crescita intrauterina, il ritardo dello sviluppo, la bassa statura, il deficit intellettivo moderato-grave, la microcefalia, i dismorfismi facciali (rime palpebrali oblique verso l'alto, ipertelorismo, anomalie dell'orecchio, sella nasale allargata, palato ogivale, micrognatia, bocca piccola, labbra sottili), le anomalie delle mani, dei piedi e dei genitali. Possono associarsi problemi comportamentali, disturbi dell'udito e del linguaggio, cardiopatie congenite, malformazioni cerebrali ed atresia anale."},"nl":{"name":"Ringchromosoom 13-syndroom","synonyms":["Ring 13","Ringchromosoom 13"],"definition":"Een zeldzame chromosomale anomalie van chromosoom 13, gekenmerkt door een zeer variabel fenotype (gaande van mild tot ernstig) met als voornaamste kenmerken intra-uteriene groeiretardatie, ontwikkelingsachterstand, kleine gestalte, matige tot ernstige intellectuele achterstand, microcefalie, faciale dysmorfie (opwaarts hellende ooglidspleten, hypertelorisme, abnormale oren, brede neusbrug, hoog gebogen gehemelte, micrognathie, kleine mond, en dunne lippen), anomalieën van handen en voeten, en genitale afwijkingen. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer gedragsproblemen, gehoor- en spraakstoornissen, congenitale hartdefecten, cerebrale malformaties, en anusatresie."},"pt":{"name":"Cromossoma 13 em anel"},"pl":{"name":"Chromosom pierścieniowy 13","synonyms":["Ring 13","Ring chromosome 13"],"definition":"Rzadka anomalia dotycząca chromosomu 13 o bardzo zmiennym fenotypie (od łagodnego do ciężkiego), charakteryzująca się głównie opóźnieniem wzrastania wewnątrzmacicznego, opóźnieniem rozwoju, niskim wzrostem, upośledzeniem umysłowym w stopniu umiarkowanym lub ciężkim, małogłowiem, dysmorfią twarzy (tj. szpary powiekowe skierowane do góry, hiperteloryzm, nieprawidłowe uszy, szeroka nasada nosa, wysoko wysklepione podniebienie, małożuchwie, małe usta i cienkie wargi), wadami dłoni i stóp oraz wadami narządów płciowych. Dodatkowe zgłaszano problemy behawioralne, zaburzenia słuchu i mowy, wrodzone wady serca, wady rozwojowe mózgu i atrezję odbytu."},"cs":{"name":"Ring chromozom 13","synonyms":["Kruhový chromozom 13"]},"uk":{"name":"Синдром кільцевої хромосоми 13","synonyms":["Кільце 13","Кільцева хромосома 13"],"definition":"A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia."},"zh":{"name":"13号环状染色体综合征","synonyms":["13号环状染色体"],"definition":"13号环状染色体是13号染色体的一种染色体异常，具有广泛且多变的表型（从轻度到重度），主要表现为宫内生长迟缓、发育迟缓、身材矮小、中度到重度智力缺陷、小头畸形、面部畸形（即睑裂上斜、眼间距宽、异常耳朵、宽鼻梁、高颚弓、小颌畸形、小嘴、薄嘴唇）、手足异常、生殖器异常。所报道的其他特征包括行为问题、听力和语言障碍、先天性心脏病、脑畸形和肛门闭锁。"},"tr":{"name":"Halka kromozom 13 sendromu","synonyms":["Halka 13","Halka kromozomu 13"]}},"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":"1507222715"},{"source":"MONDO","code":"0019907","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795847","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6069","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]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.72,"area":"United Kingdom","status":"Validated","source":"7129419[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-16","source":"7129419[PMID]_9881566[PMID]_1277571[PMID]_7440241[PMID]_5303427[PMID]_11273829[PMID]_23431756[PMID]_9332662[PMID]_1433229[PMID]_25171325[PMID]_24932608[PMID]_25377780[PMID]_717293[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005927","label":"Aplasia/hypoplasia involving bones of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000832","label":"Primary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012211","label":"Abnormal renal physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000676","label":"Abnormality of the incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011301","label":"Absent foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030032","label":"Partial absence of foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005233","label":"Hypoplasia of the gallbladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009919","label":"Retinoblastoma","frequency":"Very rare (<4-1%)","criteria":null}]}}