{"orpha":1448,"name":"Ring chromosome 6 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 6","Ring chromosome 6"],"definition":"Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1448/","orphanet_url":"https://www.orpha.net/en/disease/detail/1448","names":{"fr":{"name":"Syndrome du chromosome 6 en anneau","synonyms":["Chromosome 6 en anneau"],"definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable. Il se caractérise principalement par un retard de croissance prénatal/post-natale, un déficit intellectuel, un retard de développement, une dysmorphie craniofaciale (incluant une microcéphalie, une microphtalmie, des plis épicanthiques, des oreilles malformées et implantées basses, un pont nasal large et plat, des lèvres charnues, une micrognathie), des anomalies du système nerveux central (comme une hydrocéphalie, une atrophie corticale, une ventriculomégalie), un cou court et un retard de l'âge osseux. Des anomalies cardiaques et des membres ont aussi été rapportées, ainsi que des malformations de l'articulation de la hanche et des convulsions."},"de":{"name":"Ringchromosom-6-Syndrom","synonyms":["Ringchromosom 6"],"definition":"Das Ringchromosom-6-Syndrom ist ein seltene Chromosomenanomalie mit hochvariablem Phänotyp. Es ist hauptsächlich gekennzeichnet durch pränatale/postnatale Wachstumsstörungen, Intelligenzminderung, Entwicklungsverzögerung, kraniofaziale Dysmorphien (incl. Mikrozephalie, Mikrophthalmie, Epikanthus, tief angesetzte und fehlgebildete Ohren, breiter und flacher Nasenrücken, volle Lippen, Mikrognathie) sowie Anomalien des zentralen Nervensystems (z. B. Hydrozephalus, kortikale Atrophie, Ventrikulomegalie), verkürzten Hals und verzögertes Knochenalter. Es wurde auch über Herzfehler, Gliedmaßenanomalien, Hüftgelenksfehlbildungen und Krampfanfälle berichtet."},"es":{"name":"Síndrome del cromosoma 6 en anillo","synonyms":["Anillo 6","Cromosoma 6 en anillo"],"definition":"Es una anomalía cromosómica con un fenotipo altamente variable que se caracteriza principalmente por falta de crecimiento pre-/postnatal, discapacidad intelectual, retraso en el desarrollo, dismorfia craneofacial (incluyendo microcefalia, microftalmía, epicanto, orejas malformadas de baja implantación, puente nasal ancho y plano, labios llenos, micrognatia), anomalías del sistema nervioso central (p. ej., hidrocefalia, atrofia cortical, ventriculomegalia), cuello corto y retraso de la edad ósea. También se han descrito defectos cardíacos, anomalías de las extremidades, malformaciones de la articulación de la cadera y convulsiones."},"it":{"name":"Cromosoma 6 ad anello","definition":"Il cromosoma 6 ad anello è un'anomalia cromosomica rara; il quadro clinico è molto variabile, caratterizzato prevalentemente da ritardo della crescita pre-/post-natale, disabilità intellettiva, ritardo dello sviluppo, dismorfismi craniofacciali (microcefalia, microftalmia, epicanto, orecchie malformate e a basso impianto, sella nasale ampia e piatta, labbra carnose, micrognazia), anomalie del sistema nervoso centrale (idrocefalo, atrofia corticale, ventricolomegalia), collo corto e ritardo dell'età ossea. Sono stati descritti pazienti con cardiopatie, anomalie degli arti, malformazioni delle articolazioni dell'anca e crisi epilettiche."},"nl":{"name":"Ringchromosoom 6-syndroom","synonyms":["Ring 6","Ringchromosoom 6"],"definition":"Ringchromosoom 6 syndroom is een zeldzaam syndroom met een chromosomale anomalie, en vertoont een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door prenataal/postnataal groeifalen, intellectuele achterstand, ontwikkelingsachterstand, craniofaciale dysmorfie (inclusief microcefalie, microftalmie, epicanthusplooien, laagstaande en misvormde oren, brede en platte neusbrug, volle lippen, micrognathie), anomalieën van het centrale zenuwstelsel (e.g. hydrocefalie, corticale atrofie, ventriculomegalie), korte hals/nek, en vertraagde botmaturatie. Hartdefecten, ledemaatanomalieën, malformaties van de heupgewrichten, en insulten werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome do cromossoma 6 em anel","synonyms":["Anel do cromossoma 6"]},"pl":{"name":"Chromosom pierścieniowy 6","synonyms":["Ring 6","Ring chromosome 6"]},"cs":{"name":"Ring chromozom 6","synonyms":["Ring 6","Ring chromosome 6"]},"uk":{"name":"Синдром кільцевої хромосоми 6","synonyms":["Кільце 6","Кільцева хромосома 6"],"definition":"Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported."},"zh":{"name":"环状6号染色体综合征","synonyms":["环状6号染色体"]},"tr":{"name":"Halka kromozom 6 sendromu","synonyms":["Halka 6","Halka kromozomu 6"]}},"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":"1086479681"},{"source":"MONDO","code":"0015440","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795814","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6095","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":25.0,"area":"Worldwide","status":"Validated","source":"23398904[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23398904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}