{"orpha":99776,"name":"Mosaic trisomy 9 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 9","Trisomy 9 mosaicism"],"definition":"Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99776/","orphanet_url":"https://www.orpha.net/en/disease/detail/99776","names":{"fr":{"name":"Syndrome de trisomie 9 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable. Il se caractérise principalement par un déficit intellectuel, un retard de croissance et de développement, une dysmorphie faciale (incluant une microphtalmie, des yeux profondément implantés, des oreilles malformées, implantées basses, un nez bulbeux, un palais ogival, une micrognathie), des anomalies cardiaques congénitales (comme une communication interventriculaire), ainsi que des anomalies urogénitales (organes génitaux hypoplasiques, cryptorchidie), squelettiques (luxations congénitales articulaires ou hyperflexion articulaire, scoliose/cyphose) et du système nerveux central (hydrocéphalie, malformation de Dandy-Walker). Des lésions pigmentaires cutanées en mosaïque sont aussi observées fréquemment le long des lignes de Blaschko."},"de":{"name":"Mosaik-Trisomie 9","synonyms":["Mosaik-Trisomie Chromosom 9"],"definition":"Die Mosaik-Trisomie 9 ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp. Die Manifestationen umfassen Intelligenzminderung, Wachstums- und Entwicklungsverzögerung, Gesichtsdysmorphie (u. a. Mikrophthalmus, tiefliegende Augen, tiefliegende, fehlgebildete Ohren, Knollennase, hochgewölbter Gaumen, Mikrognathie) und angeborene Herzfehler (z. B. Ventrikelseptumdefekt), urogenitale Anomalien (z. B. hypoplastische Genitalien, Kryptorchismus) und skelettale Fehlbildungen (z. B. kongenitale Gelenksdislokationen oder Hyperflexion, Skoliose/Kyphose) sowie ZNS-Anomalien (Hydrozephalus, Dandy-Walker-Malformation). Pigmentierte Mosaik-Hautläsionen entlang der Blaschko-Linien werden ebenfalls häufig beobachtet."},"es":{"name":"Síndrome de trisomía 9 en mosaico","synonyms":["Trisomía del cromosoma 9 en mosaico"],"definition":"La trisomía 9 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por discapacidad intelectual, retraso del crecimiento y del desarrollo, dismorfia facial (que incluye microftalmia, ojos hundidos, orejas malformadas de baja implantación, nariz bulbosa, paladar alto y arqueado, micrognatia) y defectos cardíacos congénitos (p. ej., defecto septal ventricular), así como urogenitales (p. ej., genitales hipoplásicos, criptorquidia), así como anomalías esqueléticas (luxaciones congénitas de las articulaciones o hiperflexión, escoliosis/cifosis) y anomalías del sistema nervioso central (hidrocefalia, malformación de Dandy-Walker). También se observan con frecuencia lesiones cutáneas pigmentarias en mosaico, a lo largo de las líneas de Blaschko."},"it":{"name":"Sindrome trisomia 9 in mosaico","synonyms":["Trisomia 9 in mosaico","Trisomia del cromosoma 9 in mosaico"],"definition":"La trisomia 9 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile ed è caratterizzato prevalentemente da disabilità intellettiva, ritardo della crescita e dello sviluppo, dismorfismi facciali (microftalmia, occhi infossati, orecchie malformate e a basso impianto, naso globoso, palato ogivale, micrognazia), cardiopatie congenite (difetto del setto interventricolare) e anomalie urogenitali (ipoplasia dei genitali, criptorchidismo), scheletriche (lussazioni articolari congenite o iperflessione delle articolazioni, scoliosi/cifosi) e del sistema nervoso centrale (idrocefalo, malformazione di Dandy-Walker). Spesso sono presenti lesioni cutanee pigmentate in mosaico lungo le linee di Blaschko."},"nl":{"name":"Mozaïektrisomie 9-syndroom","synonyms":["Mozaïektrisomie chromosoom 9","Trisomie 9 mozaïcisme"],"definition":"Mozaïektrisomie 9 is een zeldzaam syndroom met een chromosomale anomalie, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door intellectuele achterstand, groei- en ontwikkelingsachterstand, faciale dysmorfie (incl. microftalmie, diepliggende ogen, laagstaande en misvormde oren, bolle neus, hoog gebogen verhemelte, micrognathie) en congenitale hartdefecten (e.g. ventrikelseptumdefect), alsook anomalieën van het urogenitale stelsel (e.g. hypoplastische genitaliën, cryptorchidie), het skelet (congenitale dislocaties of hyperflexie van gewrichten, scoliose/kyfose) en het centrale zenuwstelsel (hydrocefalie, malformatie van Dandy-Walker). Huidlaesies van pigmentair mozaïcisme langs de lijnen van Blaschko worden ook frequent waargenomen."},"pt":{"name":"Trissomia 9 em mosaicismo"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 9","synonyms":["Mosaic trisomy chromosome 9","Trisomy 9 mosaicism"]},"cs":{"name":"Mozaika trizomie 9","synonyms":["Mosaic trisomy chromosome 9","Trisomy 9 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 9","synonyms":["Мозаїчна трисомія хромосоми 9","Трисомія 9 мозаїцизм"],"definition":"Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed."},"zh":{"name":"9号染色体嵌合型三体","synonyms":["嵌合性9号染色体三体"],"definition":"嵌合型9三体是一种罕见的染色体异常综合征，其表型多变，主要特征是智力障碍、生长发育迟缓、面部畸形(包括：小眼、眼球深陷、低位畸形耳、蒜头鼻、高弓腭、小颌畸形）、先天性心脏病(比如室间隔缺损)、泌尿生殖器官畸形(如生殖器发育不良、隐睾)、骨骼畸形(先天性关节脱位或过度屈曲、脊柱侧凸/后凸)和中枢神经系统异常(脑积水、Dandy-Walker畸形)。沿着Blaschko线的色素性马赛克皮肤病变也很常见。"},"tr":{"name":"Mozaik trizomi 9","synonyms":["Trizomi 9 mozaisizm","9. 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,"icd11_uri":"null"},{"source":"MONDO","code":"0020490","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535454","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930908","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"43","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"22249800[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22249800[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"21975655[PMID]_22249800[PMID]","terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012815","label":"Hypoplastic female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100752","label":"Abnormal liver lobulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}