{"orpha":96068,"name":"Mosaic trisomy 22 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 22","Trisomy 22 mosaicism"],"definition":"Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96068/","orphanet_url":"https://www.orpha.net/en/disease/detail/96068","names":{"fr":{"name":"Syndrome de trisomie 22 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable. Il se caractérise principalement par un retard de croissance pré- et post-natale, un déficit intellectuel léger à sévère, une hémi-atrophie, un cou palmé, des anomalies de la pigmentation oculaire et cutanée, une dysmorphie faciale (par ex. une microcéphalie, des fentes palpébrales obliques en haut et en dehors, un ptosis, des malformations auriculaires, un pont nasal plat, une micrognathie) et des anomalies cardiaques (incluant une communication atrioventriculaire, une sténose aortique ou pulmonaire). Une perte auditive et des malformations des membres (par ex. un cubitus valgus, une syndactylie/brachydactylie) ont été rapportées, ainsi que des anomalies rénales et génitales."},"de":{"name":"Mosaik-Trisomie 22","synonyms":["Mosaik-Trisomie Chromosom 22"],"definition":"Die Mosaik-Trisomie 22 ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der hauptsächlich durch pränatale und postnatale Wachstumsverzögerung, leichte bis schwere Intelligenzminderung, Hemiatrophie, Pterygium colli, okuläre und kutane Pigmentanomalien, kraniofaziale Dysmorphien (z. B. Mikrozephalie, aufsteigende Lidachsen, Ptosis, Ohrfehlbildungen, flacher Nasenrücken, Mikrognathie) und kardiale Anomalien (einschließlich Ventrikel- und Vorhofseptumdefekt, Pulmonal- oder Aortenstenose) gekennzeichnet ist. Schwerhörigkeit und Fehlbildungen der Gliedmaßen (z. B. Cubitus valgus, Syn-/Brachydaktylie) sowie Nieren- und Genitalanomalien können ebenfalls assoziiert sein."},"es":{"name":"Síndrome de trisomía 22 en mosaico","synonyms":["Trisomía del cromosoma 22 en mosaico"],"definition":"La trisomía 22 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por retraso del crecimiento prenatal y postnatal, discapacidad intelectual de leve a grave, hemiatrofia, cuello alado, alteraciones pigmentarias cutáneas y oculares, rasgos craneofaciales dismórficos (p. ej., microcefalia, fisuras palpebrales inclinadas hacia arriba, ptosis, malformaciones del oído, puente nasal plano, micrognatia) y anomalías cardiacas (que incluyen defecto septal ventricular y atrial, estenosis pulmonar o aórtica). También se ha notificado pérdida auditiva y malformaciones de las extremidades (por ejemplo, cúbito valgo, sin/braquidactilia), así como anomalías renales y genitales."},"it":{"name":"Sindrome trisomia 22 in mosaico","synonyms":["Trisomia del cromosoma 22 in mosaico","Trisomia 22 in mosaico"],"definition":"La trisomia 22 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile ed è caratterizzato prevalentemente da ritardo della crescita pre- e post-natale, disabilità intellettiva lieve-grave, emiatrofia, plicatura del collo, anomalie della pigmentazione degli occhi e della cute, dismorfismi craniofacciali (microcefalia, rime palpebrali oblique verso l'alto, ptosi, malformazioni delle orecchie, sella nasale appiattita, micrognazia) e cardiopatie (difetto del setto interventricolare ed interatriale, stenosi polmonare o aortica). Altri segni clinici sono la sordità, le malformazioni degli arti (cubito valgo, sindattilia, brachidattilia) e i difetti dei reni e dei genitali."},"nl":{"name":"Mozaïektrisomie 22-syndroom","synonyms":["Trisomie 22 mozaïcisme","Mozaïektrisomie chromosoom 22"],"definition":"Mozaïektrisomie 22 is een zeldzaam syndroom met een chromosomale anomalie, en met een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door prenatale en postnatale groeiachterstand, milde tot ernstige intellectuele achterstand, hemiatrofie, pterygium colli (huidplooi in de nek), oculaire en cutane pigmentanomalieën, craniofaciale dysmorfe kenmerken (e.g. microcefalie, opwaartse ooglidspleten, ptose, oormalformaties, platte neusbrug, micrognathie) en hartafwijkingen (waaronder ventrikel- en atriumseptumdefect, pulmonale of aortastenose). Gehoorverlies en ledemaatmalformaties (e.g. cubitus valgus, syn-/brachydactylie), alsook renale en genitale anomalieën, werden ook reeds gerapporteerd."},"pt":{"name":"Trissomia 22 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 22","synonyms":["Mosaic trisomy chromosome 22","Trisomy 22 mosaicism"]},"cs":{"name":"Mozaiková trizomie 22","synonyms":["Mosaic trisomy chromosome 22","Trisomy 22 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 22","synonyms":["Мозаїчна трисомія хромосоми 22","Трисомія 22 мозаїцизм"],"definition":"Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported."},"zh":{"name":"22号染色体嵌合体","synonyms":["嵌合型22号染色体三体"],"definition":"嵌合型22号染色体三体是一种罕见的染色体异常综合征，具有高度多变的表型，主要表现为产前和产后生长迟缓、轻度至重度智力障碍、半萎缩、蹼颈、眼部和皮肤色素异常、颅面畸形特征（如小头畸形、上睑裂、上睑下垂、耳畸形、扁平鼻梁、小颌畸形）和心脏异常（包括室间隔和房间隔缺损、肺动脉或主动脉瓣狭窄）。听力损失和肢体畸形（如肘外翻、并指/趾畸形、短指/趾畸形）以及肾脏和生殖器异常也有报道。"},"tr":{"name":"Mozaik trizomi 22","synonyms":["Trizomi 22 mosaisizm","22. kromozomun mozaik trizomisi"]}},"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},{"source":"MONDO","code":"0019869","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536796","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931327","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6085","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":39.0,"area":"Worldwide","status":"Validated","source":"38540405[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38540405[PMID]_ORPHANET"}],"phenotypes":null}