{"orpha":1443,"name":"Ring chromosome 19 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 19","Ring chromosome 19"],"definition":"Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1443/","orphanet_url":"https://www.orpha.net/en/disease/detail/1443","names":{"fr":{"name":"Syndrome du chromosome 19 en anneau","synonyms":["Chromosome 19 en anneau"],"definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable pouvant aller d'une présentation asymptomatique à des patients présentant un déficit intellectuel sévère, un retard de développement, un trouble de l'apprentissage (surtout de la parole) et une légère dysmorphie craniofaciale (incluant une micro-/macrocéphalie, un front proéminent, des oreilles implantées basses et ourlées vers l'arrière, un hypertélorisme, un pont nasal haut, un philtrum proéminent, une rétro/micrognathie). Une légère hypotonie et des tics de type autistique (ouverture et fermeture des mains, « head banging ») peuvent aussi être associées. D'autre anomalies ont été rapportées, telles qu'un cutis laxa, une perte auditive, une syndactylie, une hypoplasie digitale et des pieds bots varus équins."},"de":{"name":"Ringchromosom-19-Syndrom","synonyms":["Ringchromosom 19"],"definition":"Das Ringchromosom 19-Syndrom ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der von normal bis hin zu Patienten mit ausgeprägter Intelligenzminderung, Entwicklungsverzögerung, Lernbehinderung (v.a. Sprache) und leichten Dysmorphien (u.a. Mikro-/Makrozephalie, prominente Stirn, tief angesetzte und nach hinten gedrehte Ohren, Hypertelorismus, hoher Nasenrücken, prominentes Philtrum, Retro-/Mikrognathie) reichen kann. Leichte Hypotonie und autismusähnliche Bewegungsabläufe (z. B. Öffnen und Schließen der Hände, Kopfschlagen) können ebenfalls auftreten. Auch weitere Anomalien wie Cutis Laxa, Hörverlust, Syndaktylie, digitale Hypoplasie und Klumpfüße wurden beschrieben."},"es":{"name":"Síndrome del cromosoma 19 en anillo","synonyms":["Anillo 19","Cromosoma 19 en anillo"],"definition":"Es una anomalía cromosómica poco frecuente con un fenotipo muy variable que puede variar desde pacientes normales a pacientes con discapacidad intelectual profunda, retraso en el desarrollo, dificultades de aprendizaje (especialmente del habla) y leve dismorfia (incluyendo micro/macrocefalia, frente prominente, orejas de implantación baja y rotadas posteriormente, hipertelorismo, puente nasal alto, filtrum prominente, retro/micrognatia). También se pueden asociar hipotonía leve y comportamiento de tipo autista (p. ej., apertura y cierre de la mano, golpes en la cabeza). También se han descrito otras anomalías, tales como cutis laxa, pérdida auditiva, sindactilia, hipoplasia digital y pie zambo."},"it":{"name":"Cromosoma 19 ad anello","definition":"Il cromosoma 19 ad anello è un'anomalia cromosomica rara. Il quadro clinico è molto variabile; può essere normale oppure caratterizzato da grave disabilità intellettiva, ritardo dello sviluppo, difficoltà di apprendimento (in particolare del linguaggio) e dismorfismi sfumati (micro/macrocefalia, fronte prominente, orecchie a basso impianto ruotate posteriormente, ipertelorismo, radice del naso e filtro prominenti, retro/micrognazia). Possono associarsi lieve ipotonia e manierismi simil-autistici (apertura e chiusura delle mani, battere la testa). Sono stati descritti pazienti con altre anomalie (cutis laxa, sordità, sindattilia, ipoplasia delle dita e piedi equino-vari)."},"nl":{"name":"Ringchromosoom 19-syndroom","synonyms":["Ring 19","Ringchromosoom 19"],"definition":"Ringchromosoom 19 syndroom is een zeldzaam syndroom met een chromosomale anomalie, en vertoont een zeer variabel fenotype dat kan gaan van normaal tot patiënten met ernstige intellectuele achterstand, ontwikkelingsachterstand, leerproblemen (voornamelijk spraak) en milde dysmorfie (inclusief micro-/macrocefalie, uitgesproken voorhoofd, laagstaande en naar achteren gedraaide oren, hypertelorisme, hoge neusbrug, opvallend filtrum, retro-/micrognathie). Milde hypotonie en autisme-achtige gedragingen (e.g. openen en sluiten van de hand, wild schudden met het hoofd) kunnen ook geassocieerd zijn. Andere anomalieën, zoals cutis laxa, gehoorverlies, syndactylie, hypoplasie van vingers/tenen, en talipes equinovarus, werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de cromossoma 19 em anel","synonyms":["Anel do cromossoma 19"]},"pl":{"name":"Chromosom pierścieniowy 19","synonyms":["Ring 19","Ring chromosome 19"]},"cs":{"name":"Ring chromozom 19","synonyms":["Ring 19","Ring chromosome 19"]},"uk":{"name":"Синдром кільцевої хромосоми 19","synonyms":["Кільце 19","Кільцева хромосома 19"],"definition":"Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported."},"zh":{"name":"19号环状染色体综合征","synonyms":["19号环状染色体"]},"tr":{"name":"Halka kromozom 19 sendromu","synonyms":["Ring 19","Halka kromozomu 19"]}},"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":"410468035"},{"source":"MONDO","code":"0015435","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795869","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1333","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"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"15270770[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15270770[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-23","source":"8985487[PMID]_2274494[PMID]_3233786[PMID]","terms":[{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}