{"orpha":1692,"name":"Mosaic trisomy 1 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 1","Trisomy 1 mosaicism"],"definition":"A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1692/","orphanet_url":"https://www.orpha.net/en/disease/detail/1692","names":{"fr":{"name":"Syndrome de trisomie 1 en mosaïque","definition":"Trisomie rare des autosomes caractérisée par une diminution des mouvements foetaux et un retard de croissance intra-utérin, un faible poids de naissance et de multiples anomalies congénitales. Ces dernières comprennent, entre autres, une dysmorphie faciale (hypertélorisme, fente labiale/palatine, micrognathie, implantation basse des cheveux, petites oreilles orientées vers l'arrière et d'implantation basse), un périmètre crânien inférieur à la moyenne, des malformations des mains (camptodactylie) et des pieds, une hypertrichose marquée et des anomalies du cerveau, du coeur et des poumons. La létalité semble dépendre du degré de mosaïcisme."},"de":{"name":"Mosaik-Trisomie 1","synonyms":["Mosaik-Trisomie Chromosom 1"],"definition":"Die Mosaik-Trisomie 1 ist eine seltene autosomale Chromosomenanomalie, bei der in einem Teil der Körperzellen einer zusätzlichen Kopie von Chromosom 1 vorliegt. Hauptsächliche Merkmale sind reduzierte fetale Bewegungen und intrauterine Wachstumsretardierung, niedriges Geburtsgewicht und multiple kongenitale Anomalien. Zu letzteren gehören unter anderem Gesichtsdysmorphien (wie Hypertelorismus, Lippen-Gaumenspalte, Mikrognathie, niedriger Haaransatz und kleine, tief angesetzte und nach hinten gedrehte Ohren), ein unterdurchschnittlicher Kopfumfang, Deformationen der Hände (Kampodaktylie) und Füße, ausgeprägte Hypertrichose und Anomalien des Gehirns, des Herzens und der Lunge. Die Letalität scheint vom Grad des Mosaizismus abzuhängen."},"es":{"name":"Síndrome de trisomía 1 en mosaico","synonyms":["Trisomía del cromosoma 1 en mosaico"],"definition":"Es una trisomía autosómica poco frecuente caracterizada por movimientos fetales reducidos y retraso del crecimiento intrauterino, así como bajo peso al nacer y anomalías congénitas múltiples. Estas últimas incluyen, entre otras, dismorfia facial (hipertelorismo, labio leporino/paladar hendido, micrognatia, línea de implantación del cabello baja y orejas pequeñas de implantación baja y rotadas posteriormente), perímetro cefálico inferior al promedio, deformidades de las manos (camptodactilia) y de los pies, marcada hipertricosis, y anomalías cerebrales, cardíacas y pulmonares. La letalidad parece depender del grado de mosaicismo."},"it":{"name":"Sindrome trisomia 1 in mosaico","synonyms":["Trisomia 1 in mosaico","Trisomia del cromosoma 1 in mosaico"],"definition":"Si tratta di una trisomia autosomica rara, caratterizzata dalla riduzione dei movimenti del feto e ritardo della crescita prenatale, scarso peso alla nascita e anomalie congenite multiple, che comprendono i dismorfismi facciali (ipertelorismo, labio/palatoschisi, micrognazia, bassa attaccatura dei capelli e orecchie piccole, a basso impianto e ruotate posteriormente), circonferenza cranica inferiore alla media, deformità delle mani (camptodattilia) e dei piedi, ipertricosi marcata, e anomalie del cervello, del cuore e dei polmoni. La letalità correla con il grado di mosaicismo."},"nl":{"name":"Mozaïektrisomie 1-syndroom","synonyms":["Mozaïektrisomie chromosoom 1","Trisomie 1 mozaïcisme"],"definition":"Een zeldzame, autosomale trisomie, gekarakteriseerd door verminderde foetale bewegingen en intra-uteriene groeiretardatie, laag geboortegewicht, en multipele congenitale anomalieën. Deze laatsten omvatten onder meer faciale dysmorfie (zoals hypertelorisme, gespleten lip/verhemelte, micrognathie, lage haarlijn, en kleine, laagstaande en naar achteren gedraaide oren), een hoofdomtrek onder het gemiddelde, misvormingen van handen (camptodactylie) en voeten, aanzienlijke hypertrichose, en anomalieën van hersenen, hart en longen. Letaliteit lijkt af te hangen van de mate van mozaïcisme."},"pt":{"name":"Trissomia 1 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 1","synonyms":["Mosaic trisomy chromosome 1","Trisomy 1 mosaicism"]},"cs":{"name":"Mozaiková forma trizomie 1","synonyms":["Mosaic trisomy chromosome 1","Trisomy 1 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 1","synonyms":["Мозаїчна трисомія хромосоми 1","Трисомія 1 мозаїчність"],"definition":"A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism."},"zh":{"name":"1号染色体嵌合三倍体","synonyms":["嵌合1号染色体三体"]},"tr":{"name":"Mozaik trizomi 1","synonyms":["Trizomi 1 mozaisizmi","Mozaik trizomi kromozomu 1"]}},"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":"0015706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394675","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":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8835327[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8835327[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-29","source":"28437579[PMID]_21145991[PMID]_23933412[PMID]","terms":[{"hpo":"HP:0001233","label":"2-3 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001032","label":"Absent distal interphalangeal creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100040","label":"Broad 2nd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001837","label":"Broad toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009943","label":"Complete duplication of thumb phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007911","label":"Congenital bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010344","label":"Deviation of the 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001188","label":"Hand clenching","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100839","label":"Hepatic agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012553","label":"Hypoplastic thumbnail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045086","label":"Knee joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003244","label":"Penile hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007291","label":"Posterior fossa cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000803","label":"Renal cortical cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000188","label":"Short upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000237","label":"Small anterior fontanelle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}