{"orpha":96178,"name":"Ring chromosome 16 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 16","Ring chromosome 16"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96178/","orphanet_url":"https://www.orpha.net/en/disease/detail/96178","names":{"fr":{"name":"Syndrome du chromosome 16 en anneau","synonyms":["Chromosome 16 en anneau"],"definition":"Un syndrome rare d'anomalie chromosomique, causé par la délétion partielle du chromosome 16. Il se caractérise par un retard de croissance pré- et post-natale, un retard sévère du développement, un déficit intellectuel, un retard de la parole et une dysmorphie craniofaciale (microcéphalie, hypertélorisme, fentes palpébrales obliques en bas et en dehors, ptosis, télécanthus, oreilles dysmorphiques implantées basses, pont nasal large et plat, coins de la bouche tournés vers le bas, palais haut, rétrognathie). Les patients peuvent aussi présenter des cataractes congénitales, une légère synophridie, une hypotonie, et un contact social déficient. Des anomalies cardiaques congénitales (communication interventriculaire, persistance du canal artériel) ont aussi été rapportées."},"de":{"name":"Ringchromosom-16-Syndrom","synonyms":["Ringchromosom 16"],"definition":"Eine seltene Chromosomenanomalie, die aus einer partiellen Deletion des Chromosoms 16 resultiert. Das Syndrom ist gekennzeichnet durch prä- und postnatale Wachstumsverzögerung, schwere Entwicklungsverzögerung, Intelligenzminderung, Sprachverzögerung und kraniofaziale Dysmorphien (z. B. Mikrozephalie, Hypertelorismus, abfallende Lidspalten, Ptosis, Telekanthus, tief angesetzte und dysmorphe Ohren, breiter, flacher Nasenrücken, nach unten gezogene Mundwinkel, hoher Gaumen, Retrognathie). Die Patienten können auch einen kongenitalen Katarakt, leichte Synophrys und Hypotonie aufweisen. Angeborene Herzanomalien (z. B. Ventrikelseptumdefekt, offener Ductus arteriosus) sind ebenfalls berichtet worden."},"es":{"name":"Síndrome del cromosoma 16 en anillo","synonyms":["Anillo 16","Cromosoma 16 en anillo"],"definition":"Es una anomalía cromosómica poco frecuente, resultante de la deleción parcial del cromosoma 16. Está caracterizado por retraso del crecimiento pre- y postnatal, retraso grave del desarrollo, discapacidad intelectual, retraso del habla y dismorfia craneofacial (p. ej., microcefalia, hipertelorismo, fisuras palpebrales descendentes, ptosis, telecantus, orejas dismórficas de implantación baja, puente nasal ancho y plano, comisuras de la boca hacia abajo, paladar alto, retrognatia). Los afectados también pueden presentar cataratas congénitas, sinofridia leve, hipotonía y escaso contacto social. También se ha descrito anomalías cardiacas congénitas (como defecto septal ventricular, conducto arterioso persistente)."},"it":{"name":"Cromosoma 16 ad anello","definition":"Il cromosoma 16 ad anello è un'anomalia cromosomica rara, causata dalla delezione parziale del cromosoma 16, caratterizzata da ritardo della crescita pre- e post-natale, grave ritardo dello sviluppo, disabilità intellettiva, ritardo del linguaggio e dismorfismi craniofacciali (microcefalia, ipertelorismo, rime palpebrali oblique verso il basso, ptosi, telecanto, orecchie dismorfiche a basso impianto, sella nasale ampia e piatta, angoli della bocca rivolti verso il basso, palato ogivale, retrognazia). I pazienti possono inoltre presentare cataratta congenita, lieve sinofria, ipotonia e scarso contatto sociale. Sono stati descritti casi di pazienti con cardiopatie (difetto del setto ventricolare e pervietà del dotto arterioso)."},"nl":{"name":"Ringchromosoom 16-syndroom","synonyms":["Ringchromosoom 16","Ring 16"],"definition":"Een zeldzaam syndroom met een chromosomale anomalie door partiële deletie van chromosoom 16, gekenmerkt door pre- en postnatale groeiachterstand, ernstige ontwikkelingsachterstand, intellectuele achterstand, spraakachterstand, en craniofaciale dysmorfie (microcefalie, hypertelorisme, schuin naar beneden hellende ooglidspleten, ptosis, telecanthus, laagstaande en dysmorfe oren, brede en platte neusbrug, naar beneden gekeerde mondhoeken, hoog gehemelte, retrognathie). Patiënten vertonen mogelijk ook congenitaal cataract, milde synophrys, hypotonie, en pover sociaal contact. Congenitale hartanomalieën (zoals ventrikelseptumdefect, persisterende ductus arteriosus) werden ook reeds gerapporteerd."},"pt":{"name":"Cromossoma 16 em anel"},"pl":{"name":"Chromosom pierścieniowy 16","synonyms":["Ring 16","Ring chromosome 16"],"definition":"Rzadki zespół anomalii chromosomowych, wynikający z częściowej delecji chromosomu 16, charakteryzujący się przed- i pourodzeniowym opóźnieniem wzrastania, znacznym opóźnieniem rozwoju, niepełnosprawnością intelektualną, opóźnieniem mowy i dysmorfią twarzoczaszki (np. małogłowie, hiperteloryzm, szpary powiekowe skierowane skośne w dół, opadanie powiek, telekantus, nisko osadzone i dysmorficzne uszy, szeroka płaska nasada nosa, opadające kąciki ust, wysokie podniebienie, retrognacja). Pacjenci mogą mieć także wrodzoną zaćmę, łagodnie zrośnięte brwi, obniżone napięcie mięśniowe i słabe kontakty społeczne. Opisywano również wrodzone wady serca (np. ubytek przegrody międzykomorowej, przetrwały przewód tętniczy)."},"cs":{"name":"Ring chromozom 16","synonyms":["Kruhový chromozom 16"]},"uk":{"name":"Синдром кільцевої хромосоми 16","synonyms":["Кільце 16","Кільцева хромосома 16"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported."},"zh":{"name":"16号环状染色体综合征","synonyms":["16号环状染色体"],"definition":"16号环状染色体是一种罕见的染色体异常综合征，由16号染色体部分缺失引起，其特点是出生前和出生后生长迟缓、严重发育迟缓、智力障碍、语言发育迟缓和颅面畸形（如小头畸形、眼间距宽、睑裂下斜、上睑下垂、内眦距过宽、低位畸形耳、鼻梁宽而扁平、嘴角下弯、高腭弓、下颌后缩畸形）。患者还可能出现先天性白内障、轻度连眉、肌张力减退和社会交往不良。先天性心脏异常（如室间隔缺损、动脉导管未闭）也有报道。"},"tr":{"name":"Halka kromozom 16 sendromu","synonyms":["Halka 16","Halka kromozomu 16"]}},"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":"0019909","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706449","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10855","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":10.0,"area":"Worldwide","status":"Validated","source":"23705081[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23705081[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-13","source":"18503834[PMID]_23705081[PMID]_9137886[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004812","label":"B Acute Lymphoblastic Leukemia","frequency":"Very rare (<4-1%)","criteria":null}]}}