{"orpha":276413,"name":"10q22.3q23.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(10)(q22.3q23.3)","Deletion 10q22.3q23.3","Monosomy 10q22.3q23.3"],"definition":"10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276413/","orphanet_url":"https://www.orpha.net/en/disease/detail/276413","names":{"fr":{"name":"Syndrome de microdélétion 10q22.3q23.3","synonyms":["Del(10)(q22.3q23.3)","Délétion 10q22.3q23.3","Monosomie 10q22.3q23.3"],"definition":"Monosomie partielle rare des autosomes caractérisée par une légère dysmorphie faciale (macrocéphalie, front large, hypertélorisme ou hypotélorisme, yeux enfoncés dans les orbites, fentes palpébrales orientées vers le haut ou vers le bas, oreilles d'implantation basse, pont nasal plat, philtrum lisse, lèvre supérieure fine), fente palatine, malformations cérébelleuses et cardiaques, retard du développement psychomoteur et troubles comportementaux (trouble déficitaire de l'attention avec hyperactivité, autisme). D'autres caractéristiques rares peuvent inclure une aplasie mammaire congénitale, une arachnodactylie, une hyperlaxité articulaire, les pieds bots, des difficultés à s'alimenter et un retard de croissance."},"de":{"name":"Mikrodeletionssyndrom 10q22.3q23.3","synonyms":["Del(10)(q22.3q23.3)","Deletion 10q22.3q23.3","Monosomie 10q22.3q23.3"]},"es":{"name":"Síndrome de microdeleción 10q22.3q23.3","synonyms":["Del(10)(q22.3q23.3)","Deleción 10q22.3q23.3","Monosomía 10q22.3q23.3"],"definition":"Es una monosomía autosómica parcial poco frecuente, caracterizada por leve dismorfia facial que incluye macrocefalia, frente ancha, hiper- o hipotelorismo, ojos hundidos, fisuras palpebrales inclinadas hacia arriba o hacia abajo, orejas de implantación baja, puente nasal plano, surco nasolabial liso, labio superior delgado, paladar hendido, malformaciones cerebelosas y cardíacas, retraso del desarrollo psicomotor y trastornos de conducta (trastorno por déficit de atención con hiperactividad, autismo). Otras características poco frecuentes incluyen aplasia congénita de las mamas, aracnodactilia, hiperlaxitud articular, pie equinovaro, dificultades en la alimentación y fallo de medro."},"it":{"name":"Sindrome da microdelezione 10q22.3q23.3","synonyms":["Del(10)(q22.3q23.3)","Delezione 10q22.3q23.3","Monosomia 10q22.3q23.3"],"definition":"La sindrome da microdelezione 10q22.3q23.3 è una monosomia parziale rara a trasmissione autosomica, caratterizzata da dismorfismi facciali sfumati variabili (macrocefalia, fronte ampia, iper- o ipotelorismo, occhi infossati, rime palpebrali oblique verso l'alto o il basso, orecchie a basso impianto, sella nasale piatta, filtro liscio, labbro superiore sottile), palatoschisi, malformazioni cerebellari, cardiopatie, ritardo dello sviluppo psicomotorio ed anomalie del comportamento (deficit di attenzione con iperattività, autismo). Raramente i pazienti presentano aplasia congenita delle mammelle, aracnodattilia, iperlassità articolare, piede equino, difficoltà di alimentazione e ritardo della crescita."},"nl":{"name":"10q22.3q23.3-microdeletiesyndroom","synonyms":["Del(10)(q22.3q23.3)","Deletie 10q22.3q23.3","Monosomie 10q22.3q23.3"],"definition":"10q22.3q23.3 microdeletiesyndroom is een zeldzame partiële autosomale monosomie die gekarakteriseerd wordt door een milde en variabele faciale dysmorfie (met onder meer macrocefalie, breed voorhoofd, hypertelorisme of hypotelorisme, diepliggende ogen, schuin naar boven of onder hellende ooglidspleten, laagstaande oren, platte neusbrug, vlak filtrum, dunne bovenlip), gespleten verhemelte, cerebellaire en cardiale malformaties, psychomotorische ontwikkelingsachterstand, en gedragsafwijkingen (aandachtstekortstoornis met hyperactiviteit, autisme). Andere mogelijke zeldzame kenmerken zijn onder meer congenitale aplasie van de borst, arachnodactylie, hyperlaxiteit van gewrichten, klompvoeten, voedingsproblemen, en groeiachterstand."},"pt":{"name":"Síndrome de microdeleção 10q22.3q23.3"},"pl":{"name":"Zespół mikrodelecji 10q22.3q23.3","synonyms":["Del(10)(q22.3q23.3)","Delecja 10q22.3q23.3","Monosomia 10q22.3q23.3"],"definition":"*Zespół mikrodelecji 10q22.3q23.3 jest rzadką, częściową monosomią autosomu, która charakteryzuje się łagodną, zmienną dysmorfią twarzy, obejmującą wielkogłowie, szerokie czoło, hiperteloryzm lub hipoteloryzm, głęboko osadzone oczy, skośnie ku górze lub w dół ustawione szpary powiekowe, nisko osadzone uszy, płaski grzbiet nosa, gładką rynienkę podnosową, cienką górną wargę, rozszczep podniebienia, wady móżdżku i serca, opóźnienie rozwoju psychoruchowego i zaburzenia zachowania (zespół nadpobudliwości psychoruchowej z deficytem uwagi - ADHD, autyzm). Do innych rzadziej występujących objawów należą: wrodzona aplazja piersi, arachnodaktylia, stopy końsko-szpotawe, trudności w odżywianiu, zahamowanie rozwoju."},"cs":{"name":"Syndrom mikrodelece 10q22.3q23.3","synonyms":["Del(10)(q22.3q23.3)","Delece 10q22.3q23.3","Monozomie 10q22.3q23.3"]},"uk":{"name":"Синдром мікроделеції 10q22.3q23.3","synonyms":["Del(10)(q22.3q23.3)","Делеція 10q22.3q23.3","Моносомія 10q22.3q23.3"],"definition":"10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive."},"zh":{"name":"10q22.3q23.3微缺失综合征","synonyms":["10q22.3q23.3单体"],"definition":"10q22.3q23.3微缺失综合征是一种罕见的部分常染色体单体综合征，其特征是轻度面部畸形，包括大头、额头宽、斜视或斜视、眼睛深陷、上下睑裂、低位耳、鼻梁扁平、中耳光滑、上唇薄）、腭裂、小脑心脏畸形、精神运动发育迟缓和行为异常（注意缺陷多动障碍、自闭症）。其他罕见特征包括先天性乳房发育不全、蛛网膜下移、关节过度松弛、足爪弯曲、喂养困难、发育不良。"},"tr":{"name":"10q22.3q23.3 mikrodelesyon sendromu","synonyms":["Del(10)(q22.3q23.3)","Delesyon 10q22.3q23.3","Monozomi 10q22.3q23.3"]}},"xrefs":[{"source":"OMIM","code":"612242","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.A0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"302802893"},{"source":"MONDO","code":"0012830","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12830","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749270","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262083,"name":"Partial deletion of the long arm of chromosome 10 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100444","label":"Curved middle phalanx of the 4th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}