{"orpha":96172,"name":"Ring chromosome 3 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 3","Ring chromosome 3"],"definition":"Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96172/","orphanet_url":"https://www.orpha.net/en/disease/detail/96172","names":{"fr":{"name":"Syndrome du chromosome 3 en anneau","synonyms":["Chromosome 3 en anneau"],"definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable. Il se caractérise principalement par un retard de croissance pré- et post-natale, une petite taille, un retard de développement, un déficit intellectuel léger à sévère, une microcéphalie et une légère dysmorphie faciale (incluant un visage triangulaire, des oreilles dysplasiques, des fentes palpébrales obliques en haut et en dehors, des plis épicanthiques, un large pont nasal, une pointe nasale charnue, un long philtrum, les coins de la bouche tournés vers le bas et une micro/rétrognathie). Les signes additionnels rapportés incluent une hypotonie, une légère limitation articulaire, une surdité, des anomalies digitales (clinodactylie, brachydactylie), des taches café au lait et un hypospadias."},"de":{"name":"Ringchromosom-3-Syndrom","synonyms":["Ringchromosom 3"],"definition":"Eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der hauptsächlich durch prä- und postnatale Wachstumsretardierung, Kleinwuchs, Entwicklungsverzögerung, leichte bis schwere Intelligenzminderung, Mikrozephalie und leichte dysmorphe Merkmale (inkl. dreieckiges Gesicht, dysplastische Ohren, aufsteigende Lidachsen, Epikanthusfalten, breiter Nasenrücken, volle Nasenspitze, langes Philtrum, nach unten gezogene Mundwinkel und Mikro/Retrognathie) gekennzeichnet ist. Als weitere Manifestationen werden Hypotonie, leichte Gelenkeinschränkungen, Schwerhörigkeit, digitale Anomalien (d.h. Klinodaktylie, Brachydaktylie), Café-au-lait-Flecken und Hypospadie berichtet."},"es":{"name":"Síndrome del cromosoma 3 en anillo","synonyms":["Anillo 3","Cromosoma 3 en anillo"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente con un fenotipo altamente variable que se caracteriza principalmente por retraso del crecimiento pre- y postnatal, talla baja, retraso en el desarrollo, discapacidad intelectual de leve a grave, microcefalia y características dismórficas leves (incluyendo cara triangular, orejas displásicas, fisuras palpebrales ascendentes, pliegues epicánticos, puente y punta nasal anchos, filtrum largo, comisuras de la boca inclinadas hacia abajo y micro-/retrognatia). Otras manifestaciones adicionales descritas incluyen hipotonía, leve limitación articular, pérdida auditiva, anomalías de los dedos (es decir, clinodactilia, braquidactilia), manchas café con leche e hipospadias."},"it":{"name":"Cromosoma 3 ad anello","definition":"Il cromosoma 3 ad anello è un'anomalia cromosomica rara; il quadro clinico è molto variabile, caratterizzato prevalentemente da ritardo della crescita pre- e post-natale, bassa statura, ritardo dello sviluppo, disabilità intellettiva lieve o grave, microcefalia e dismorfismi sfumati (viso triangolare, orecchie displastiche, rime palpebrali oblique verso l'alto, epicanto, selle nasale ampia, punta del naso grossolana, filtro lungo, angoli della bocca rivolti verso il basso e micro/retrognazia). Altri segni clinici sono l'ipotonia, le limitazioni parziali dei movimenti articolari, la sordità, le anomalie delle dita (clinodattilia, brachidattilia), le macchie caffè-latte e l'ipospadia."},"nl":{"name":"Ringchromosoom 3-syndroom","synonyms":["Ring 3","Ringchromosoom 3"],"definition":"Ringchromosoom 3 syndroom is een zeldzaam syndroom met een chromosomale anomalie, en vertoont een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door pre- en postnatale groeiretardatie, kleine gestalte, ontwikkelingsachterstand, milde tot ernstige intellectuele achterstand, microcefalie en milde dysmorfe kenmerken (inclusief driehoekig gelaat, dysplastische oren, opwaarts hellende ooglidspleten, epicanthusplooien, brede neusbrug, volle neuspunt, lang filtrum, naar beneden gekeerde mondhoeken, en micro-/retrognathie). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer hypotonie, milde articulaire beperkingen, gehoorverlies, anomalieën aan vingers/tenen (i.e. clinodactylie, brachydactylie), café-au-lait vlekken en hypospadieën."},"pt":{"name":"Cromossoma 3 em anel"},"pl":{"name":"Chromosom pierścieniowy 3","synonyms":["Ring 3","Ring chromosome 3"]},"cs":{"name":"Ring chromozom 3","synonyms":["Kruhový chromozom 3"]},"uk":{"name":"Синдром кільцевої хромосоми 3","synonyms":["Кільце 3","Кільцева хромосома 3"],"definition":"Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias."},"zh":{"name":"3号环状染色体综合征","synonyms":["3号环状染色体"],"definition":"3号环状染色体综合征是一种罕见的染色体异常综合征，具有高度可变的表型，主要表现为出生前和出生后生长迟缓、身材矮小、发育迟缓、轻度至重度智力障碍、小头畸形和轻度畸形特征（包括三角脸、耳发育不良、睑裂上斜、内眦赘皮、宽鼻梁、鼻尖饱满、人中长、嘴角向下和小颌/下颌后缩畸形）。被报道的其他表现包括肌张力减退、轻度关节局限、听力丧失、指/趾异常（即指/趾侧弯畸形、短指/趾畸形）、牛奶咖啡斑斑和尿道下裂。"},"tr":{"name":"Halka kromozom 3 sendromu","synonyms":["Halka 3","Halka kromozomu 3"]}},"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":"1899487534"},{"source":"MONDO","code":"0019904","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707449","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10839","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":11.0,"area":"Worldwide","status":"Validated","source":"11491310[PMID]_27984612[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11491310[PMID]_27984612[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-09-05","source":"21849783[PMID]_7154048[PMID]","terms":[{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}