{"orpha":1703,"name":"Mosaic trisomy 14 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 14","Trisomy 14 mosaicism"],"definition":"Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1703/","orphanet_url":"https://www.orpha.net/en/disease/detail/1703","names":{"fr":{"name":"Syndrome de trisomie 14 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable. Il se caractérise principalement par un retard de croissance et de développement, un déficit intellectuel, une asymétrie/hypotonie corporelle, des anomalies cardiaques congénitales, des anomalies génito-urinaires (cryptorchidie, micropénis, clitoris large, gonflement labial) et une hyperpigmentation cutanée anormale. Les patients présentent habituellement une dysmorphie craniofaciale, telle qu'une microcéphalie, des fentes palpébrales anormales, un hypertélorisme, des anomalies auriculaires, un large nez, des oreilles implantées basses, une micro-/rétrognathie, et une fente palatine ou un palais ogival."},"de":{"name":"Mosaik-Trisomie 14","synonyms":["Mosaik-Trisomie Chromosom 14"],"definition":"Eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der hauptsächlich durch Wachstums- und Entwicklungsverzögerung, intellektuelle Beeinträchtigung, Körperasymmetrie/Hypotonie, angeborene Herzfehler, urogenitale Anomalien (Kryptorchismus, Mikropenis, große Klitoris, labiale Schwellung) und Hyperpigmentierung der Haut gekennzeichnet ist. Die Patienten zeigen in der Regel kraniofaziale Dysmorphien wie Mikrozephalie, abnorme Lidspalte, Hypertelorismus, Ohranomalien, breite Nase, tief angesetzte Ohren, Mikro-/Retrognathie und Gaumenspalte oder stark gewölbter Gaumen."},"es":{"name":"Síndrome de trisomía 14 en mosaico","synonyms":["Trisomía del cromosoma 14 en mosaico"],"definition":"La trisomía 14 en mosaico es una anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por retraso del crecimiento y del desarrollo, discapacidad intelectual, hipotonía/asimetría corporal, defectos cardíacos congénitos, anomalías genitourinarias (criptorquidia, micropene, clítoris grande, prominencia de labios mayores), e hiperpigmentación anómala de la piel. Los afectados suelen presentar dismorfia craneofacial, incluyendo microcefalia, fisura palpebral anómala, hipertelorismo, orejas anómalas y de baja implantación, nariz ancha, micro/retrognatia y paladar hendido o muy arqueado."},"it":{"name":"Sindrome trisomia 14 in mosaico","synonyms":["Trisomia 14 in mosaico","Trisomia del cromosoma 14 in mosaico"],"definition":"La trisomia 14 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile ed è caratterizzato prevalentemente da ritardo della crescita e dello sviluppo, disabilità intellettiva, ipotonia/asimmetria del corpo, cardiopatie congenite, anomalie genito-urinarie (criptorchidismo, micropene, ipertrofia del clitoride e gonfiore delle labbra) e iperpigmentazione cutanea. Di solito i pazienti presentano dismorfismi craniofacciali (microcefalia, anomalie delle rime palpebrali, ipertelorismo, difetti delle orecchie, naso largo, orecchie a basso impianto, micro/retrognazia e palatoschisi o palato ogivale."},"nl":{"name":"Mozaïektrisomie 14-syndroom","synonyms":["Mozaïektrisomie chromosoom 14","Trisomie 14 mozaïcisme"],"definition":"Mozaïektrisomie 14 is een zeldzame chromosomale anomalie met een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door groei- en ontwikkelingsachterstand, intellectuele achterstand, lichaamsasymmetrie/-hypotonie, congenitale hartdefecten, genito-urinaire afwijkingen (cryptorchidie, micropenis, grote clitoris, gezwollen schaamlippen), en abnormale hyperpigmentatie van de huid. Patiënten vertonen meestal craniofaciale dysmorfie zoals microcefalie, abnormale ooglidspleten, hypertelorisme, oorafwijkingen, brede neus, laagstaande oren, micro-/retrognathie, en gespleten of hoog gebogen verhemelte."},"pt":{"name":"Trissomia 14 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 14","synonyms":["Mosaic trisomy chromosome 14","Trisomy 14 mosaicism"]},"cs":{"name":"Mozaiková forma trizomie 14","synonyms":["Mosaic trisomy chromosome 14","Trisomy 14 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 14","synonyms":["Мозаїчна трисомія хромосоми 14","Трисомія 14 мозаїчність"],"definition":"Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate."},"zh":{"name":"14号染色体嵌合三体","synonyms":["14号染色体嵌合三体"]},"tr":{"name":"Mozaik trizomi 14","synonyms":["Trizomi 14 mozaisizmi","Mozaik trizomi kromozomu 14"]}},"xrefs":[{"source":"ICD-10","code":"Q92.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD40.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015725","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535489","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930917","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1327","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98131,"name":"Total autosomal trisomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"30181735[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30181735[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null}]}}