{"orpha":485405,"name":"16p12.1p12.3 triplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Tetrasomy 16p12.1p12.3","Trip(16)(p12.1p12.3)"],"definition":"16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-485405/","orphanet_url":"https://www.orpha.net/en/disease/detail/485405","names":{"fr":{"name":"Syndrome de triplication 16p12.1p12.3","synonyms":["Trip(16)(p12.1p12.3)","Tétrasomie 16p12.1p12.3"],"definition":"Syndrome rare d'anomalies chromosomiques résultant de la triplication partielle du bras court du chromosome 16, caractérisé par un retard global de développement, un retard de croissance pré ou post-natal et des caractéristiques craniofaciales particulières, notamment des fentes palpébrales courtes, un épicanthus, un nez bulbeux, un vermillon supérieur fin, une implantation basse des oreilles, des grands lobes. Des caractéristiques cliniques variables ont été décrites, notamment une cardiopathie congénitale, des anomalies génito-urinaires, des anomalies visuelles ou, plus rarement, une maladie hépatique infantile. Des doigts effilés s'observent par ailleurs chez certains patients."},"de":{"name":"Triplikation 16p12.1p12.3","synonyms":["Trip(16)(p12.1p12.3)","Tetrasomie 16p12.1p12.3"],"definition":"Die Triplikation 16p12.1p12.3 ist eine seltene Chromosomenanomalie, die aus einer partiellen Triplikation des kurzen Arms von Chromosom 16 resultiert. Sie manifestiert sich durch eine globale Entwicklungsverzögerung, eine prä- oder postnatale Wachstumsverzögerung und ausgeprägte kraniofaziale Merkmale wie kurze Lidspalten, Epikanthusfalten, eine Knollennase, einen dünnen oberen Saum des Lippenrotes, scheinbar tief angesetzte Ohren und große Ohrläppchen. Zu den berichteten variablen klinischen Merkmalen gehören angeborene Herzfehler, urogenitale Anomalien, visuelle Anomalien und in seltenen Fällen eine frühkindliche Lebererkrankung. Es wird auch von spitz zulaufenden Fingern berichtet."},"es":{"name":"Síndrome de triplicación 16p12.1p12.3","synonyms":["Tetrasomía 16p12.1p12.3","Trip(16)(p12.1p12.3)"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente que resulta de la triplicación parcial del brazo corto del cromosoma 16. Está caracterizado por retraso global del desarrollo, retraso del crecimiento pre- o postnatal y características craneofaciales distintivas, que incluyen fisuras palpebrales cortas, pliegues en epicanto, nariz bulbosa, borde bermellón superior delgado, orejas aparentemente de implantación baja y lóbulos grandes. Otras características clínicas variables descritas incluyen, cardiopatías congénitas, anomalías genitourinarias, anomalías visuales o, con menor frecuencia, enfermedades hepáticas de la infancia. También se ha descrito la presencia de dedos cónicos."},"it":{"name":"Sindrome da triplicazione 16p12.1p12.3","definition":"La sindrome da triplicazione 16p12.1p12.3 è un'anomalia cromosomica rara causata dalla triplicazione parziale del braccio corto del cromosoma 16, caratterizzata da ritardo dello sviluppo globale, ritardo della crescita pre- e post-natale e dismorfismi craniofacciali caratteristici (rime palpebrali corte, epicanto, naso globoso, assottigliamento della porzione mucosa del labbro superiore, orecchie a basso impianto con lobi grandi). Altri possibili segni clinici sono le cardiopatie congenite, le anomalie genito-urinarie e della vista e, più raramente, la malattia epatica neonatale. I pazienti presentano inoltre dita affusolate."},"nl":{"name":"16p12.1p12.3 triplicatiesyndroom","synonyms":["Tetrasomie 16p12.1p12.3","Trip(16)(p12.1p12.3)"],"definition":"Een zeldzaam syndroom met chromosomale anomalie als gevolg van partiële triplicatie van de korte arm van chromosoom 16 (triplicatie van regio 16p12.1p12.3), gekarakteriseerd door algehele ontwikkelingsachterstand, pre- of postnatale groeiachterstand, en typische craniofaciale kenmerken, waaronder korte ooglidspleten, epicanthusplooi, knolvormige neus, dunne bovenste vermiljoenrand, schijnbaar laagstaande oren en grote oorlellen. Overige variabele klinische kenmerken die werden gerapporteerd, zijn onder meer congenitale hartziekte, urogenitale afwijkingen, visuele anomalieën of, minder gangbaar, infantiele hepatische ziekte. Er werden ook patiënten met taps toelopende vingers gerapporteerd."},"pt":{"name":"Síndrome de triplicação 16p12.1p12.3"},"pl":{"name":"Zespół triplikacji 16p12.1p12.3","synonyms":["Tetrasomia 16p12.1p12.3","Tetrasomia 16p12.1-p12.3","Trip(16)(p12.1p12.3)"],"definition":"*Zespół triplikacji 16p12.1p12.3 jest rzadkim zespołem, związanym z aberracją chromosomową, która powstała w wyniku częściowej triplikacji krótkiego ramienia chromosomu 16. Charakteryzuje się całościowym opóźnieniem rozwoju, pre- i postnatalnym zahamowaniem wzrastania oraz odrębnymi/specyficznymi cechami twarzoczaszki, w tym krótkimi szparami powiekowymi, zmarszczkami nakątnymi, bulwiastym nosem, cienką czerwienią górnej wargi, nisko osadzonymi uszami i dużymi płatkami uszu. Zgłaszano także inne wady/nieprawidłowości, w tym wrodzoną chorobę serca, wady układu moczowo-płciowego, wady wzroku oraz rzadziej, niemowlęcą chorobę wątroby. U pacjentów stwierdzano także zwężające się ku opuszkom palce."},"cs":{"name":"Syndrom triplikace 16p12.1p12.3","synonyms":["Tetrasomy 16p12.1p12.3","Trip(16)(p12.1p12.3)"]},"uk":{"name":"Синдром тріплікації 16p12.1p12.3","synonyms":["Тетрасомія 16р12.1р12.3","Trip(16)(p12.1p12.3)"],"definition":"16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers."},"zh":{"name":"16p12.1p12.3三体综合征","synonyms":["染色体16p12.1p12.3三体综合征"],"definition":"染色体16p12.1p12.3三体综合征是一种罕见的染色体异常综合征，是由16号染色体短臂部分重复引起的，其特点是全面发育迟缓，出生前或出生后生长发育迟缓，并有明显的颅面部特征，包括短腭裂、内眦赘皮褶、球形鼻、薄上唇红缘、明显的低位耳和大耳垂。已报道的各种临床特征包括先天性心脏病、泌尿生殖系统异常、视觉异常或较少见的婴儿肝病。也有报道患者有锥形指。"},"tr":{"name":"16p12.1p12.3 triplikasyon sendromu","synonyms":["Trip(16)(p12.1p12.3)","Tetrazomi 16p12.1p12.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044621","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680097","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262794,"name":"Partial duplication of the short arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26647099[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26647099[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-09","source":"17704777[PMID]_26647099[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007687","label":"Unilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011040","label":"Abnormality of the intrahepatic bile duct","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040025","label":"Clinodactyly of the 4th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012170","label":"Nail-biting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012166","label":"Skin-picking","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}