{"orpha":319171,"name":"Distal 17p13.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal del(17)(p13.1)"],"definition":"Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319171/","orphanet_url":"https://www.orpha.net/en/disease/detail/319171","names":{"fr":{"name":"Syndrome de microdélétion 17p13.1 distale","synonyms":["Del(17)(p13.1) distale"],"definition":"Syndrome d'anomalie des chromosomes rare caractérisé par un retard global de développement/une déficience intellectuelle légers, un langage limité ou absent, une dysmorphie faciale (étage moyen de la face allongé, rétrognathie avec supraclusion, oreilles décollées), une microcéphalie, un retard de croissance staturo-pondérale, les jambes très écartées pendant la marche et une posture caractérisée par la flexion des genoux et des coudes, les mains étant maintenues dans l'axe du corps."},"de":{"name":"Mikrodeletionssyndrom 17p13.1, distal","synonyms":["Del(17)(p13.1), distal"]},"es":{"name":"Síndrome de microdeleción terminal 17p13.1","synonyms":["Del(17)(p13.1) terminal"],"definition":"El síndrome de microdeleción 17p13.1 terminal es una anomalía cromosómica poco frecuente, caracterizada por leve retraso global del desarrollo / discapacidad intelectual, con ausencia o deficiencia del lenguaje, rasgos dismórficos (zona mediofacial alargada, retrognatia con sobremordida, orejas prominentes), microcefalia, fallo de medro, marcha atáxica y postura corporal con rodillas y codos en flexión y manos mantenidas en la línea media."},"it":{"name":"Sindrome da microdelezione 17p13.1 distale","synonyms":["Del(17)(p13.1) distale"],"definition":"La sindrome da microdelezione 17p13.1 distale è un'anomalia cromosomica rara, caratterizzata da lieve ritardo dello sviluppo globale/disabilità intellettiva, associata a scarsità o assenza di linguaggio, dismorfismi (porzione medio-facciale allungata, retrognazia con morso profondo, orecchie prominenti), microcefalia, ritardo della crescita, andatura a base allargata e una postura del corpo con flessione delle ginocchia e dei gomiti e mani mantenute lungo la linea mediana."},"nl":{"name":"Distale 17p13.1-microdeletiesyndroom","synonyms":["Distale del(17)(p13.1)"],"definition":"Distale 17p13.1 microdeletiesyndroom is een zeldzaam syndroom met een chromosomale anomalie, en wordt gekarakteriseerd door milde algehele ontwikkelingsachterstand/intellectuele achterstand met povere tot afwezige spraak, dysmorfe kenmerken (lang middengezicht, retrognathie met overbeet, flaporen), microcefalie, groeiachterstand, gang met brede basis en een lichaamshouding met flexie van knieën en ellebogen en handen die op de middellijn gehouden worden."},"pt":{"name":"Síndrome de microdeleção distal 17p13.1"},"pl":{"name":"Zespół mikrodelecji dystalnej 17p13.1","synonyms":["Dystalna del(17)(p13.1)"],"definition":"*Zespół mikrodelecji dystalnej 17p13.1 to rzadka aberracja chromosomowa, która charakteryzuje się łagodnym całościowym opóźnieniem rozwoju/niepełnosprawnością intelektualną ze słabą rozwiniętą mowa lub jej brakiem, cechami dysmorficznymi (długa środkowa część twarzy, retrognacja z nadmiernym wysunięciem górnego łuku zębowego, odstające uszy), małogłowiem, brakiem rozwoju, chodem na szerokiej podstawie i postawą ciała ze zgiętymi kolanami i łokciami oraz rękoma utrzymywanymi w linii środkowej."},"cs":{"name":"Distální 17p13.1 mikrodeleční syndrom","synonyms":["Distální del(17)(p13.1)"]},"uk":{"name":"Синдром дистальної мікроделеції 17p13.1","synonyms":["Дистальна del(17)(p13.1)"],"definition":"Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline."},"zh":{"name":"17p13.1远端微缺失综合征","synonyms":["17p13.1远端缺失"],"definition":"远端17p13.1微缺失综合征是一种罕见的染色体异常综合征，其特征是轻微的整体发育迟缓/智力障碍，言语能力差或缺失，畸形特征（面中部过长，下颌后缩伴覆牙合，耳廓突出），小头畸形，生长发育迟滞，宽基步态和膝关节和肘部弯曲、双手保持在中线的姿势。"},"tr":{"name":"Distal 17p13.1 mikrodelesyon sendromu","synonyms":["Distal del(17)(p13.1)"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017867","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749349","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":261965,"name":"Partial deletion of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"24501763[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24501763[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-11","source":"22753084[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011094","label":"Overbite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010501","label":"Limitation of knee mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002996","label":"Limited elbow movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006927","label":"Unilateral polymicrogyria","frequency":"Occasional (29-5%)","criteria":null}]}}