{"orpha":1698,"name":"Mosaic trisomy 12 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 12","Trisomy 12 mosaicism"],"definition":"Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1698/","orphanet_url":"https://www.orpha.net/en/disease/detail/1698","names":{"fr":{"name":"Syndrome de trisomie 12 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique possédant un phénotype très variable. Il se caractérise principalement par un retard du développement ou de la croissance, une petite taille, une dysmorphie craniofaciale (incluant une turricéphalie, un front haut, des fentes palpébrales obliques en bas et en dehors, des oreilles implantées basses et ourlées vers l'arrière, un palais étroit), des anomalies cardiaques congénitales (comme une communication interatriale, une persistance du canal artériel), une hypotonie et une dysplasie pigmentaire. Une scoliose, une perte auditive, une asymétrie faciale/corporelle et un déficit intellectuel ont aussi été rapportés."},"de":{"name":"Mosaik-Trisomie 12","synonyms":["Mosaik-Trisomie Chromosom 12"],"definition":"Die Mosaik-Trisomie 12 ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der hauptsächlich durch Entwicklungs- oder Wachstumsverzögerung, Kleinwuchs, kraniofaziale Dysmorphien (z.B.. Turrizephalie, hohe Stirn, schräg abwärts verlaufende Lidspalten, nach hinten gedrehte und tief angesetzte Ohren, schmaler Gaumen), angeborene Herzfehler (z. B. Vorhofseptumdefekt, offener Ductus arteriosus), Hypotonie und Pigmentstörungen gekennzeichnet ist. Skoliose, Schwerhörigkeit, Gesichts-/Körperasymmetrie und intellektuelle Beeinträchtigung wurden ebenfalls berichtet."},"es":{"name":"Síndrome de trisomía 12 en mosaico","synonyms":["Trisomía del cromosoma 12 en mosaico"],"definition":"La trisomía 12 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por retraso del desarrollo o del crecimiento, talla baja, dismorfia craneofacial (p. ej., turricefalia, frente alta, fisuras palpebrales inclinadas hacia abajo, orejas de baja implantación y rotadas posteriormente, paladar estrecho), anomalías cardíacas congénitas (p. ej., comunicación interauricular, ductus arterioso persistente), hipotonía y displasia pigmentaria. También se han descrito escoliosis, pérdida de audición, asimetría facial/corporal y discapacidad intelectual."},"it":{"name":"Sindrome trisomia 12 in mosaico","synonyms":["Trisomia del cromosoma 12 in mosaico","Trisomia 12 in mosaico"],"definition":"La trisomia 12 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile, caratterizzato prevalentemente da ritardo dello sviluppo o della crescita, bassa statura, dismorfismi cranio-facciali (turricefalia, fronte alta, rime palpebrali oblique verso il basso, orecchie a basso impianto ruotate posteriormente, palato stretto), cardiopatie congenite (difetto del setto atriale, pervietà del dotto arterioso), ipotonia e displasia pigmentaria. Possono associarsi scoliosi, sordità, asimmetria facciale/del corpo e disabilità intellettiva."},"nl":{"name":"Mozaïektrisomie 12-syndroom","synonyms":["Mozaïektrisomie chromosoom 12","Trisomie 12 mozaïcisme"],"definition":"Mozaïektrisomie 12 is een zeldzaam syndroom met een chromosomale anomalie, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door ontwikkelings- of groeiachterstand, kleine gestalte, craniofaciale dysmorfie (e.g. turricefalie, groot voorhoofd, neerwaartse ooglidspleten, naar achteren gedraaide en laagstaande oren, small verhemelte), congenitale hartdefecten (e.g. atriumseptumdefect, persisterende ductus arteriosus), hypotonie, en dysplasie van pigmentcellen. Scoliose, gehoorverlies, gelaats-/lichaamsasymmetrie, en intellectuele achterstand werden ook reeds gerapporteerd."},"pt":{"name":"Trissomia 12 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 12","synonyms":["Mosaic trisomy chromosome 12","Trisomy 12 mosaicism"]},"cs":{"name":"Mozaiková forma trizomie 12","synonyms":["Mosaic trisomy chromosome 12","Trisomy 12 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 12","synonyms":["Мозаїчна трисомія хромосоми 12","Трисомія 12 мозаїчність"],"definition":"Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported."},"zh":{"name":"12号染色体嵌合三倍体","synonyms":["嵌合12号染色体三体"]},"tr":{"name":"Mozaik trizomi 12","synonyms":["Trizomi 12 mozaisizmi","Mozaik trizomi kromozomu 12"]}},"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":"0015718","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706889","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5304","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":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28345774[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-12-11","source":"36316743[PMID]_34260009[PMID]_28345774[PMID]_23548227[PMID]","terms":[{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","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:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000010","label":"Linear Hyperpigmentation along Blaschko's lines","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}