{"orpha":261257,"name":"Distal 17p13.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal del(17)(p13.3 )","Distal monosomy 17p13.3"],"definition":"Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261257/","orphanet_url":"https://www.orpha.net/en/disease/detail/261257","names":{"fr":{"name":"Syndrome de microdélétion 17p13.3 distale","synonyms":["Del(17)(p13.3) distale","Monosomie 17p13.3 distale"],"definition":"Une monosomie rare et partielle du bras court du chromosome 17. Le phénotype est variable, caractérisé par un retard de croissance pré- et post-natale, un retard du développement, un léger déficit intellectuel, une macrocéphalie, une légère dysmorphie faciale incluant un front proéminent, un hypertélorisme, un vermillon épais au niveau de la lèvre supérieure et/ou inférieure, ainsi que des anomalies cérébrales structurales variées, comprenant des anomalies de la substance blanche, des espaces Vischow-Robin proéminents, une malformation de Chiari type I et une hypoplasie du corps calleux, mais pas de lissencéphalie."},"de":{"name":"Mikrodeletionssyndrom 17p13.3, distal","synonyms":["Del(17)(p13.3)","Monosomie 17p13.3, distal"],"definition":"Das distale Mikrodeletionssyndrom 17p13.3 ist eine seltene partielle Monosomie des kurzen Arms von Chromosom 17 mit einem variablen Phänotyp. Es ist gekennzeichnet durch pränatale und postnatale Wachstumsretardierung, Entwicklungsverzögerung, milde Intelligenzminderung, Makrozephalie, milde Gesichtsdysmorphien (prominente Stirn, Hypelorismus, dicke Ober- und/oder Unterlippe) sowie strukturelle Anomalien des Gehirns (inkl. Anomalien der weißen Substanz, prominente Virchow-Robin-Räume, Chiari-Malformation Typ 1 und Corpus-Callosum-Hypoplasie). Eine Lissenzephalie liegt nicht vor."},"es":{"name":"Síndrome de microdeleción terminal 17p13.3","synonyms":["Del(17)(p13.3) terminal","Monosomía terminal 17p13.3"],"definition":"El síndrome de microdeleción 17p13.3 distal es una monosomía parcial, poco frecuente, del brazo corto del cromosoma 17 con un fenotipo variable caracterizado por retraso del crecimiento prenatal y postnatal, retraso del desarrollo, discapacidad intelectual leve, macrocefalia, dismorfia facial leve que incluye frente prominente, hipertelorismo, bermellón del labio superior y/o inferior grueso, y anomalías estructurales del cerebro que incluyen, de forma variable, anomalías de la sustancia blanca, espacios de Virchow-Robin prominentes, malformación de Chiari I e hipoplasia del cuerpo calloso, pero sin lisencefalia."},"it":{"name":"Sindrome da microdelezione 17p13.3 distale","synonyms":["Del(17)(p13.3) distale","Monosomia 17p13.3 distale"],"definition":"La sindrome da microdelezione 17p13.3 distale è una monosomia parziale rara del braccio corto del cromosoma 17. Il quadro clinico è variabilmente caratterizzato da ritardo della crescita pre- e post-natale, ritardo dello sviluppo, lieve disabilità intellettiva, macrocefalia, dismorfismi facciali sfumati (fronte prominente, ipertelorismo, ispessimento della porzione mucosa del labbro superiore e/o inferiore) e anomalie strutturali del cervello, comprese quelle della sostanza bianca, ampliamento degli spazi di Virchow-Robin, malformazione di Chiari 1, ipoplasia del corpo calloso, in assenza di lissencefalia."},"nl":{"name":"Distale 17p13.3-microdeletiesyndroom","synonyms":["Distale del(17)(p13.3)","Distale monosomie 17p13.3"],"definition":"Distale 17p13.3 microdeletiesyndroom is een zeldzame partiële monosomie van de korte arm van chromosoom 17 met een variabel fenotype dat gekarakteriseerd wordt door prenatale en postnatale groeiretardatie, ontwikkelingsachterstand, milde intellectuele achterstand, macrocefalie, milde faciale dysmorfie met onder meer een uitgesproken voorhoofd, hypertelorisme, en een dik vermiljoen van de boven- en/of onderlip, en structurele afwijkingen van de hersenen met afwisselend afwijkingen van de witte stof, uitgesproken ruimten van Virchow-Robin, Chiari I malformatie, hypoplasie van het corpus callosum, maar geen lissencefalie."},"pt":{"name":"Síndrome de microdeleção distal 17p13.3","synonyms":["Monossomia distal 17p13.3"]},"pl":{"name":"Zespół mikrodelecji dystalnej 17p13.3","synonyms":["Dystalna del(17)(p13.3)","Monosomia dystalna 17p13.3"]},"cs":{"name":"Syndrom distální mikrodelece 17p13.3","synonyms":["Distální del(17)(p13.3)","Distální monozomie 17p13.3"]},"uk":{"name":"Синдром дистальної мікроделеції 17р13.3","synonyms":["Дистальний del(17)(p13.3 )","Дистальна моносомія 17p13.3"],"definition":"Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly."},"zh":{"name":"17p13.3远端微缺失综合征","synonyms":["17p13.3远端单体"],"definition":"17p13.3远端微缺失综合征是一种罕见的17号染色体短臂部分单体，具有多变的表型，其特征有出生前和出生后生长发育迟缓、轻度智力障碍、巨颅畸形、轻度面部畸形(包括前额突出、眼距过宽、厚上唇和/或下唇)，以及不同的脑结构异常，包括白质异常、Virchow-Robin间隙突出、ChiariⅠ型畸形、胼胝体发育不全但没有无脑畸形。"},"tr":{"name":"Distal 17p13.3 mikrodelesyon sendromu","synonyms":["Distal del (17) (p13.3)","Distal monozomi 17p13.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.H1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1528310650"},{"source":"MONDO","code":"0016839","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707092","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261965,"name":"Partial deletion of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"YWHAE","name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20599530[PMID]","hgnc":"12851","ensembl":"ENSG00000108953","omim":"605066","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"20599530[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20599530[PMID]"}],"phenotypes":null}