{"orpha":1439,"name":"Ring chromosome 12 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 12","Ring chromosome 12"],"definition":"Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1439/","orphanet_url":"https://www.orpha.net/en/disease/detail/1439","names":{"fr":{"name":"Syndrome du chromosome 12 en anneau","synonyms":["Chromosome 12 en anneau"],"definition":"Un syndrome d'anomalie chromosomique rare, de phénotype très variable, caractérisé principalement par un retard de croissance post-natale, un retard de développement et un déficit intellectuel de sévérité variable, une microcéphalie et une dysmorphie faciale (incluant des plis épicanthiques, des oreilles implantées basses, en forme de tasse, un nez proéminent avec un pont nasal plat, un palais ogival, une micrognathie). Des anomalies squelettiques (comme un pectus excavatum, une clinodactylie), des malformations cardiaques congénitales, une cryptorchidie, des taches café au lait et une épilepsie ont aussi été rapportées."},"de":{"name":"Ringchromosom-12-Syndrom","synonyms":["Ringchromosom 12"]},"es":{"name":"Síndrome del cromosoma 12 en anillo","synonyms":["Anillo 12","Cromosoma 12 en anillo"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente con un fenotipo muy variable que se caracteriza, principalmente, por retraso en el crecimiento postnatal, diferentes grados de retraso en el desarrollo y discapacidad intelectual, microcefalia y dismorfia facial (incluyendo pliegues epicánticos, orejas en copa de baja implantación, nariz prominente con puente nasal plano, paladar alto arqueado, micrognatia). También se han descrito anomalías esqueléticas (p. ej., pectus excavatum, clinodactilia), malformaciones cardíacas congénitas, criptorquidia, manchas café con leche y epilepsia."},"it":{"name":"Cromosoma 12 ad anello","definition":"Il cromosoma 12 ad anello è un'anomalia cromosomica rara; il quadro clinico è molto variabile, caratterizzato prevalentemente da ritardo della crescita postnatale, ritardo dello sviluppo e disabilità intellettiva di gravità variabile, microcefalia e dismorfismi facciali (epicanto, orecchie a coppa e a basso impianto, naso prominente con sella piatta, palato ogivale, micrognazia). Possono associarsi anomalie scheletriche (pectus excavatum, clinodattilia), cardiopatie congenite, criptorchidismo, macchie caffè-latte ed epilessia."},"nl":{"name":"Ringchromosoom 12-syndroom","synonyms":["Ring 12","Ringchromosoom 12"],"definition":"Ringchromosoom 12 syndroom is een zeldzaam syndroom met een chromosomale anomalie, en vertoont een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door postnatale groeiretardatie, variabele gradaties van ontwikkelingsachterstand en intellectuele achterstand, microcefalie en faciale dysmorfie (inclusief epicanthusplooien, laagstaande en komvormige oren, uitgesproken neus met platte neusbrug, hoog gebogen verhemelte, micrognathie). Skeletafwijkingen (e.g. pectus excavatum, clinodactylie), congenitale hartmalformaties, cryptorchidie, café-au-lait vlekken en epilepsie werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome do cromossoma 12 em anel","synonyms":["Anel do cromossoma 12"]},"pl":{"name":"Chromosom pierścieniowy 12","synonyms":["Ring 12","Ring chromosome 12"],"definition":"*Chromosom pierścieniowy 12 jest rzadką aberracją chromosomową o wysoce zmiennym fenotypie, która charakteryzuje się głównie opóźnieniem wzrastania po urodzeniu, zmiennym stopniem opóźnienia rozwoju i niepełnosprawnością intelektualną, małogłowiem i dysmorfią twarzy (zmarszczki nakątne, nisko osadzone, kubkowate uszy, wydatny nos z płaskim grzbietem, wysokie podniebienie, mikrognacja). Opisywano również występowanie nieprawidłowości układu kostnego (szewska klatka piersiowa, klinodaktylia), wrodzonych wad serca, wnętrostwa, plam kawowych na skórze i padaczki."},"cs":{"name":"Ring chromozom 12","synonyms":["Ring 12","Ring chromosome 12"]},"uk":{"name":"Синдром кільцевої хромосоми 12","synonyms":["Кільце 12","Кільцева хромосома 12"],"definition":"Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported."},"zh":{"name":"环状12号染色体综合征","synonyms":["环状12号染色体"]},"tr":{"name":"Halka kromozom 12 sendromu","synonyms":["Halka 12","Halka kromozomu 12"]}},"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":"2106682821"},{"source":"MONDO","code":"0015432","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5201040","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1325","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"17880954[PMID]_20933620[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17880954[PMID]_20933620[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-16","source":"12599192[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004207","label":"Abnormality of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000807","label":"Glandular hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009656","label":"Symphalangism of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000131","label":"Uterine leiomyoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}