{"orpha":261311,"name":"20q13.33 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(20)(q13.33)","Monosomy 20q13.33"],"definition":"A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261311/","orphanet_url":"https://www.orpha.net/en/disease/detail/261311","names":{"fr":{"name":"Syndrome de microdélétion 20q13.33","synonyms":["Del(20)(q13.33)","Monosomie 20q13.33"],"definition":"Anomalie chromosomique rare résultant de la délétion partielle du bras long du chromosome 20. Son phénotype est très variable et se caractérise habituellement par une hypotonie, un déficit intellectuel, des troubles cognitifs et du langage (incluant une diminution ou une absence de la parole), un retard de croissance pré- et post-natale, des difficultés pour s'alimenter, une microcéphalie et des malformations au niveau des mains et des pieds. Sont fréquemment associés des troubles neuro-développementaux (incluant une hyperactivité, des troubles de l'interaction sociale et un trouble du spectre autistique), des convulsions et une dysmorphie faciale (front haut, hypertélorisme, oreilles malformées, large pont nasal, pointe nasale bulbeuse, lèvre supérieure fine, menton court)."},"de":{"name":"Mikrodeletionssyndrom 20q13.33","synonyms":["Del(20)(q13.33)","Monosomie 20q13","Monosomie 20q13.33"],"definition":"Eiine seltene Chromosomenanomalie, die aus einer partiellen Deletion des langen Arms von Chromosom 20 resultiert und einen sehr variablen Phänotyp aufweist, der typischerweise durch Hypotonie, Intelligenzminderung, kognitive und sprachliche Defizite (einschließlich verminderter oder fehlender Sprache), prä- und postnatale Wachstumsretardierung, Fütterungsschwierigkeiten, Mikrozephalie und Fehlbildungen der Hände und Füße gekennzeichnet ist. Neuroentwicklungsstörungen (einschließlich Hyperaktivität, sozial-interaktive Probleme und Autismus-Spektrum-Störung), Krampfanfälle und dysmorphe Gesichtszüge (hohe Stirn, Hypertelorismus, deformierte Ohren, breiter Nasenrücken, knollige Nasenspitze, dünne Oberlippe, kleines Kinn) sind häufig assoziiert."},"es":{"name":"Síndrome de microdeleción 20q13.33","synonyms":["Del(20)(q13.33)","Monosomía 20q13.33"],"definition":"Es un síndrome poco frecuente de anomalías cromosómicas resultante de la deleción parcial del brazo largo del cromosoma 20 con un fenotipo altamente variable. Se caracteriza típicamente por hipotonía, discapacidad intelectual, déficit cognitivo y del lenguaje (incluyendo disminución o ausencia del habla), retraso del crecimiento pre- y postnatal, dificultades de alimentación, microcefalia y malformaciones de manos y pies. Se asocia frecuentemente a trastornos del neurodesarrollo (incluyendo hiperactividad, problemas de interacción social y trastornos del espectro autista), crisis y rasgos faciales dismórficos (frente alta, hipertelorismo, orejas malformadas, puente nasal ancho, punta nasal bulbosa, labio superior fino y barbilla pequeña)."},"it":{"name":"Sindrome da microdelezione 20q13.33","synonyms":["Del(20)(q13.33)","Monosomia 20q13.33"],"definition":"La sindrome da microdelezione 20q13.33 è un'anomalia cromosomica rara causata dalla delezione parziale del braccio lungo del cromosoma 20; il quadro clinico è molto variabile e di solito è caratterizzato da ipotonia, disabilità intellettiva, deficit cognitivi e linguistici (che comprendono l'assenza o la riduzione del linguaggio), ritardo della crescita pre- e post-natale, difficoltà alimentari, microcefalia e malformazioni delle mani e dei piedi. Spesso si associano anomalie dello sviluppo neurologico (iperattività, problemi di interazione sociale e disturbo dello spettro autistico), crisi epilettiche e dismorfismi facciali (fronte alta, ipertelorismo, malformazioni auricolari, radice del naso allargata, punta del naso globosa, labbro superiore sottile, mento piccolo)."},"nl":{"name":"20q13.33-microdeletiesyndroom","synonyms":["Del(20)(q13.33)","Monosomie 20q13.33"],"definition":"Een zeldzaam syndroom door een chromosomale anomalie, veroorzaakt door partiële deletie van de lange arm van chromosoom 20, en gekenmerkt door een zeer variabel fenotype met doorgaans hypotonie, intellectuele achterstand, cognitieve functiestoornis en taalstoornis (waaronder verminderde of afwezige spraak), pre- en postnatale groeiretardatie, voedingsproblemen, microcefalie, en misvormde handen en voeten. Neurologische ontwikkelingsstoornissen (waaronder hyperactiviteit, problemen met sociale interactie, en autismespectrumstoornis), insulten en dysmorfe gelaatskenmerken (hoog voorhoofd, hypertelorisme, misvormde oren, brede neusbrug, knolvormige neuspunt, dunne bovenlip, kleine kin) zijn vaak geassocieerd."},"pt":{"name":"Síndrome de microdeleção 20q13"},"pl":{"name":"Zespół mikrodelecji 20q13.33","synonyms":["Del(20)(q13.33)","Monosomia 20q13.33"]},"cs":{"name":"Syndrom mikrodelece 20q13.33","synonyms":["Del(20)(q13.33)","Monozomie 20q13.33"]},"uk":{"name":"Синдром мікроделеції 20q13.33","synonyms":["Del(20)(q13.33)","Моносомія 20q13.33"],"definition":"A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated."},"zh":{"name":"20q13.33微缺失综合征","synonyms":["20q13.33单体"],"definition":"20q13.33是一种罕见的染色体异常综合征，由20号染色体长臂部分缺失引起，具有高度变异的表型，典型的特征是肌张力低下、智力障碍、认知和语言障碍(包括言语减少或缺失)、产前和产后发育迟缓、喂养困难、小头畸形和手脚畸形。神经发育障碍(包括多动症、社交问题和自闭症谱系障碍)、癫痫发作和畸形面部特征(高额、眼距过宽、畸形耳朵、宽鼻梁、鼻尖球状、上唇薄、下巴小)经常与此有关。"},"tr":{"name":"20q13.33 mikrodelesyon sendromu","synonyms":["Del (20) (q13.33)","Monozomi 20q13.33"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.L0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1574586826"},{"source":"MONDO","code":"0016843","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518823","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":96152,"name":"OBSOLETE: Distal monosomy 20q","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262164,"name":"Partial deletion of the long arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-23","source":"26030193[PMID]_20805988[PMID]","terms":[{"hpo":"HP:0002813","label":"Abnormality of limb bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012520","label":"Dilation of Virchow-Robin spaces","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001713","label":"Abnormal cardiac ventricle morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012858","label":"Decreased scrotal rugation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000460","label":"Narrow nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009899","label":"Prominent crus of helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null}]}}