{"orpha":251043,"name":"Ring chromosome 5 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 5","Ring chromosome 5"],"definition":"Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251043/","orphanet_url":"https://www.orpha.net/en/disease/detail/251043","names":{"fr":{"name":"Syndrome du chromosome 5 en anneau","synonyms":["Chromosome 5 en anneau"],"definition":"Un syndrome rare d'anomalie chromosomique présentant une grande variabilité phénotypique. Il se caractérise principalement par des pleurs néonataux évoquant un miaulement, un retard du développement et un déficit intellectuel sévères, une petite taille, une hypotonie, une dysmorphie faciale (incluant une microcéphalie, une asymétrie faciale, un hypertélorisme, des plis épicanthiques, des oreilles anormales, une micro/rétrognathie), des anomalies cardiaques congénitales (telles que des communications interauriculaire et interventriculaire, une insuffisance tricuspide, une aorte hypoplasique) et des anomalies squelettiques (comme des pouces hypoplasiques, une anomalie de l'ulna/du radius, des métacarpes et des phalanges dysplasiques)."},"de":{"name":"Ringchromosom 5-Syndrom","synonyms":["Ringchromosom 5"],"definition":"Das Ringchromosom-5-Syndrom ist eine seltene Chromosomenanomalie mit hoher phänotypischer Variabilität. Zu den typischen Kennzeichen gehören ein neonataler miauender Schrei, schwere Entwicklungsverzögerung und Intelligenzminderung, Kleinwuchs, Hypotonie, dysmorphe Merkmale (inkl. Mikrozephalie, Gesichtsasymmetrie, Hypertelorismus, Epikanthusfalten, abnorme Ohren, Mikro-/Retrognathie), angeborene Herzanomalien (z. B. Vorhof- und Ventrikelseptumdefekt, Trikuspidalinsuffizienz, hypoplastische Aorta) und Skelettanomalien (z. B. hypoplastische Daumen, anomale Ulna/Radius, dysplastische Mittelhandknochen und Phalangen)."},"es":{"name":"Síndrome del cromosoma 5 en anillo","synonyms":["Anillo 5","Cromosoma 5 en anillo"],"definition":"Es una anomalía cromosómica poco frecuente con una gran variabilidad fenotípica. Está caracterizado principalmente por llanto neonatal semejante al maullido de gato, grave retraso en el desarrollo y discapacidad intelectual, talla baja, hipotonía, características dismórficas (incluyendo microcefalia, asimetría facial, hipertelorismo, pliegues epicánticos, orejas anómalas, micro/retrognatia), anomalías cardíacas congénitas (tales como defecto septal atrial y ventricular, insuficiencia tricuspidea, aorta hipoplásica) y anomalías esqueléticas (p. ej., pulgares hipoplásicos, cúbito/radio anómalo, metacarpianos y falanges displásicos)."},"it":{"name":"Cromosoma 5 ad anello","definition":"Il cromosoma 5 ad anello è un'anomalia cromosomica rara; il quadro clinico è molto variabile, caratterizzato prevalentemente da pianto nel periodo neonatale che ricorda il miagolio di un gatto, grave ritardo dello sviluppo e disabilità intellettiva, bassa statura, ipotonia, dismorfismi (microcefalia, asimmetria del volto, ipertelorismo, epicanto, anomalie delle orecchie, micro/retrognazia), cardiopatie congenite (difetti del setto interatriale e interventricolare, insufficienza della tricuspide, ipoplasia dell'aorta) e anomalie scheletriche (ipoplasia dei pollici, anomalie del radio e/o dell'ulna, displasia dei metacarpi e delle falangi)."},"nl":{"name":"Ringchromosoom 5-syndroom","synonyms":["Ring 5","Ringchromosoom 5"],"definition":"Ringchromosoom 5 syndroom is een zeldzaam syndroom met een chromosomale anomalie, en vertoont een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door een katachtig gehuil bij neonaten, ernstige ontwikkelingsachterstand en intellectuele achterstand, kleine gestalte, hypotonie, dysmorfe kenmerken (inclusief microcefalie, faciale asymmetrie, hypertelorisme, epicanthusplooien, abnormale oren, micro-/retrognathie), congenitale hartanomalieën (zoals atrium- en ventrikelseptumdefect, tricuspidalisinsufficiëntie, hypoplasie van de aorta) en skeletafwijkingen (e.g. hypoplastische duimen, anomalie van de ulna/radius, dysplastische metacarpalen en falangen)."},"pt":{"name":"Cromossoma 5 em anel"},"pl":{"name":"Chromosom pierścieniowy 5","synonyms":["Ring 5","Ring chromosome 5"]},"cs":{"name":"Ring chromozom 5","synonyms":["Ring 5","Ring chromosome 5"]},"uk":{"name":"Синдром кільцевої хромосоми 5","synonyms":["Кільце 5","Кільцева хромосома 5"],"definition":"Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges)."},"zh":{"name":"5号环状染色体综合征","synonyms":["环状5号染色体"],"definition":"5号环染色体综合征是一种罕见的染色体异常综合征，具有很高的表型变异性，主要特征是新生儿哭叫，严重发育迟缓和智力障碍，身材矮小，肌张力低下，畸形特征(包括小头畸形、面部不对称、眼距过宽、内眦赘皮、耳朵异常、小颌/缩颌)、先天性心脏畸形(如心房和室间隔缺损、三尖瓣关闭不全、主动脉发育不良)和骨骼异常(如拇指发育不良、尺骨/桡骨异常、掌骨和指/趾骨发育不良)。"},"tr":{"name":"Halka kromozom 5 sendromu","synonyms":["Halka 5","Halka kromozomu 5"]}},"xrefs":[{"source":"ICD-10","code":"Q93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016654","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707450","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10841","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":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}