{"orpha":1747,"name":"Mosaic trisomy 7 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 7","Trisomy 7 mosaicism"],"definition":"Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1747/","orphanet_url":"https://www.orpha.net/en/disease/detail/1747","names":{"fr":{"name":"Syndrome de trisomie 7 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable. Il se caractérise principalement par une dysplasie pigmentaire cutanée le long de la ligne de Blaschko, une asymétrie corporelle, une dysplasie de l'émail, ainsi qu'un retard de croissance et de développement. Un déficit intellectuel, une dysmorphie faciale (comme une bosse frontale, des fentes palpébrales anormales, un strabisme, des oreilles mal formées, une micrognathie) et des anomalies génitales (comme des testicules non descendus) ont aussi été rapportés. Le syndrome est associé à une disomie uniparentale maternelle du chromosome 7, conduisant au phénotype du syndrome de Silver-Russell. Des cas sans malformation associée ont aussi été rapportés."},"de":{"name":"Mosaik-Trisomie 7","synonyms":["Mosaik-Trisomie Chromosom 7"],"definition":"Die Mosaik-Trisomie 7 ist ein seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der meist durch blaschkolineare dermale Pigmentierungsstörungen, Körperasymmetrie, Zahnschmelzdysplasie sowie Entwicklungs- und Wachstumsverzögerung gekennzeichnet ist. Intelligenzminderung, Gesichtsdysmorphien (z. B. prominente Stirn, schräge Lidachsen, Strabismus, abnorm geformte Ohren und Mikrognathie) und genitale Anomalien (z. B. Hodenhochstand) sind ebenfalls beobachtet worden. Eine Assoziation mit einer mütterlichen uniparentalen Disomie von Chromosom 7 mit daraus resultierendem Silver-Russell-Syndrom-Phänotyp wurde beschrieben. Es wurden auch Fälle ohne assoziierte Fehlbildungen dokumentiert."},"es":{"name":"Síndrome de trisomía 7 en mosaico","synonyms":["Trisomía del cromosoma 7 en mosaico"],"definition":"La trisomía 7 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por displasia pigmentaria a lo largo de las líneas de Blaschko, asimetría corporal, displasia del esmalte y retraso del crecimiento y del desarrollo. También se ha observado discapacidad intelectual, dismorfia facial (p. ej., frente prominente, fisuras palpebrales anómalas, estrabismo, orejas de forma anómala y micrognatia) y anomalías genitales (p. ej., testículos no descendidos). Se ha informado de la asociación con disomía uniparental materna del cromosoma 7, que resulta en un fenotipo de síndrome de Silver-Russell. También se han notificado casos sin malformaciones asociadas."},"it":{"name":"Sindrome trisomia 7 in mosaico","synonyms":["Trisomia 7 in mosaico","Trisomia del cromosoma 7 in mosaico"],"definition":"La trisomia 7 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile; è caratterizzato prevalentemente da displasia pigmentaria della cute lungo le linee di Blaschko, asimmetria del corpo, displasia dello smalto dei denti e ritardo dello sviluppo e della crescita. Possono coesistere altri segni clinici, come la disabilità intellettiva, i dismorfismi facciali (fronte bombata, anomalie delle rime palpebrali, strabismo, anomalie della forma dell'orecchio, micrognazia) e anomalie dei genitali (criptorchidismo). È stata osservata un'associazione con la disomia uniparentale materna del cromosoma 7, che esita nel quadro clinico caratteristico della sindrome di Silver-Russell. Sono stati descritti soggetti che non presentano alcuna malformazione."},"nl":{"name":"Mozaïektrisomie 7-syndroom","synonyms":["Mozaïektrisomie chromosoom 7","Trisomie 7 mozaïcisme"],"definition":"Mozaïektrisomie 7 is een zeldzaam syndroom met een chromosomale anomalie, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door blaschkolineaire dysplasie van huidpigment, lichaamsasymmetrie, dysplasie van tandglazuur, en ontwikkelings- en groeiachterstand. Intellectuele achterstand, faciale dysmorfie (e.g. boller voorhoofd, abnormale ooglidspleten, strabisme, abnormaal gevormde oren, en micrognathie), en genitale anomalieën (e.g. niet-ingedaalde teelballen) werden ook reeds waargenomen. Er werd associatie gerapporteerd met maternale uniparentale disomie van chromosoom 7, dat resulteert in een fenotype van syndroom van Silver-Russell. Er werden ook gevallen zonder geassocieerde malformaties gerapporteerd."},"pt":{"name":"Trissomia 7 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 7","synonyms":["Mosaic trisomy chromosome 7","Trisomy 7 mosaicism"]},"cs":{"name":"Mozaika trizomie 7","synonyms":["Mosaic trisomy chromosome 7","Trisomy 7 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 7","synonyms":["Мозаїчна трисомія хромосоми 7","Трисомія 7 мозаїцизм"],"definition":"Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported."},"zh":{"name":"7号染色体嵌合三体","synonyms":["7号染色体嵌合三体"]},"tr":{"name":"Mozaik trizomi 7","synonyms":["Trizomi 7 mozaisizmi","Mozaik trizomi kromozomu 7"]}},"xrefs":[{"source":"ICD-10","code":"Q92.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD40.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"222479685"},{"source":"MONDO","code":"0015771","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537822","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931631","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5354","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":31.0,"area":"Worldwide","status":"Validated","source":"28099615[PMID]_21056320[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28099615[PMID]_21056320[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-24","source":"21056320[PMID]_26283298[PMID]_28099615[PMID]_38576814[PMID]_33374124[PMID]","terms":[{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007988","label":"Macular hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010878","label":"Fetal cystic hygroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null}]}}