{"orpha":236,"name":"Trisomy 9p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 9p","Duplication of the short arm of chromosome 9","Trisomy of the short arm of chromosome 9"],"definition":"Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-236/","orphanet_url":"https://www.orpha.net/en/disease/detail/236","names":{"fr":{"name":"Syndrome de trisomie 9p","synonyms":["Duplication 9p","Trisomie du bras court du chromosome 9"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la trisomie partielle ou complète du bras court du chromosome 9. Le phénotype est très variable, et se caractérise classiquement par un déficit intellectuel, une dysmorphie craniofaciale (microcéphalie, fontanelle antérieure large, hypertélorisme, strabisme, fentes palpébrales obliques en bas et en dehors, oreilles décollées, mal formées et implantées basses, nez bulbeux, macrostomie, coins de la bouche tournés vers le bas, micrognathie), des anomalies digitales (brachydactylie et clinodactylie) et une petite taille. Une cardiopathie et des malformations rénales, squelettiques et du système nerveux central sont rapportées plus rarement."},"de":{"name":"Duplikation 9p partial","synonyms":["Trisomie 9p partielle"],"definition":"Trisomie 9p ist eine seltene Chromosomenanomalie, resultierend aus einer partiellen oder vollständigen Trisomie des kurzen Arms von Chromosom 9. Die Patienten zeigen eine große phänotypische Variabilität, typischerweise gekennzeichnet durch Intelligenzminderung, kraniofaziale Dysmorphien (z.B.. Mikrozephalie, große vordere Fontanelle, Hypertelorismus, Strabismus, schräg abwärts verlaufende Lidspalten, fehlgebildete, tief angesetzte, abstehende Ohren, Knollennase, Makrostomie, nach unten gebogene Mundwinkel, Mikrognathie), digitale Anomalien (Brachydaktylie und Klinodaktylie) und Kleinwuchs. Seltener zeigen die Patienten eine Kardiopathie und Fehlbildungen des Nieren-, Skelett- und Zentralnervensystems."},"es":{"name":"Síndrome de trisomía 9p","synonyms":["Dupliación 9p","Duplicación del brazo corto del cromosoma 9","Trisomía del brazo corto del cromosoma 9"],"definition":"La trisomía 9p es una anomalía cromosómica poco frecuente, resultante de una trisomía parcial o completa del brazo corto del cromosoma 9. Presenta gran variabilidad fenotípica, caracterizada típicamente por discapacidad intelectual, dismorfia craneofacial (p. ej., microcefalia, fontanela anterior amplia, hipertelorismo, estrabismo, fisuras palpebrales inclinadas hacia abajo, orejas malformadas de implantación baja y protuberantes, nariz bulbosa, macrostomía, comisuras de la boca hacia abajo, micrognatia), anomalías digitales (braquidactilia y clinodactilia) y baja estatura. Los afectados presentan, con menos frecuencia, cardiopatía y malformaciones renales, esqueléticas y del sistema nervioso central."},"it":{"name":"Sindrome trisomia 9p","synonyms":["Duplicazione 9p","Trisomia del braccio corto del cromosoma 9","Duplicazione del braccio corto del cromosoma 9"],"definition":"La trisomia 9p è un'anomalia cromosomica rara, causata dalla trisomia parziale o completa del braccio corto del cromosoma 9. Il quadro clinico è molto variabile, per lo più caratterizzato da disabilità intellettiva, dismorfismi craniofacciali (microcefalia, fontanella anteriore ampia, ipertelorismo, strabismo, rime palpebrali oblique verso il basso, orecchie malformate, a basso impianto e prominenti, naso globoso, mascrostomia, angoli della bocca rivolti verso il basso, micrognazia), anomalie delle dita (brachidattilia e clinodattilia) e bassa statura. Più raramente, i pazienti presentano cardiopatie e malformazioni renali, scheletriche e del sistema nervoso centrale."},"nl":{"name":"Trisomie 9p-syndroom","synonyms":["Duplicatie 9p","Korte arm van chromosoom 9 duplicatie","Korte arm van chromosoom 9 trisomie"],"definition":"Trisomie 9p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële of volledige trisomie van de korte arm van chromosoom 9, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door intellectuele achterstand, craniofaciale dysmorfie (e.g. microcefalie, grote anterieure fontanel, hypertelorisme, strabisme, neerwaartse ooglidspleten, misvormde, laagstaande en uitstekende oren, bolle neus, macrostomie, naar beneden gerichte mondhoeken, micrognathie), anomalieën van vingers en tenen (brachydactylie en clinodactylie), en een kleine gestalte. Minder frequent vertonen patiënten cardiopathie en malformaties van de nieren, het skelet, en het centrale zenuwstelsel."},"pt":{"name":"Trissomia 9p","synonyms":["Duplicação parcial 9p","Trissomia parcial 9p"]},"pl":{"name":"Zespół trisomii 9p","synonyms":["Duplikacja 9p","Duplikacja krótkiego ramienia chromosomu 10","Trisomia krótkiego ramienia chromosomu 9"]},"cs":{"name":"Trizomie 9p","synonyms":["Duplikace 9p","Duplikace krátkého raménka chromozomu 9","Trizomie krátkého raménka chromozomu 9","Syndrom Rethoreové"]},"uk":{"name":"Трисомія 9p","synonyms":["Дуплікація 9p","Дуплікація короткого плеча хромосоми 9","Трисомія короткого плеча хромосоми 9"],"definition":"Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations."},"zh":{"name":"9号染色体短臂三体","synonyms":["9号染色体短臂三体"]},"tr":{"name":"Trizomi 9p","synonyms":["Duplikasyon 9p","9. kromozomun kısa kolunun trizomisi","9. kromozomun kısa kolunun duplikasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.81","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"22746166"},{"source":"MONDO","code":"0016526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262767,"name":"Partial duplication/triplication of the short arm of chromosome 9 syndrome","classifications":[147,156]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"25526829[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25526829[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011079","label":"Impacted tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null}]}}