{"orpha":251019,"name":"2q32q33 deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(2)(q32q33)","Monosomy 2q32q33"],"definition":"A rare partial autosomal deletion syndrome characterized by a variable phenotype including moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. The deletion typically includes the gene <i>SATB2</i>, and patients present with the typical features of SATB2-associated syndrome, with the addition of a variable pattern of cardiovascular, genitourinary, and ectodermal congenital anomalies due to the involvement of adjacent genes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251019/","orphanet_url":"https://www.orpha.net/en/disease/detail/251019","names":{"fr":{"name":"Syndrome de délétion 2q32q33","synonyms":["Del(2)(q32q33)","Monosomie 2q32q33"],"definition":"Syndrome rare de délétions partielles des autosomes caractérisé par un phénotype variable associant une déficience intellectuelle modérée à sévère, des troubles du comportement, une petite taille, une microcéphalie, une dysplasie des ongles, des cheveux clairsemés, une fente palatine et une dysmorphie craniofaciale. La délétion englobe généralement le gène <i>SATB2</i>, et les patients présentent les caractéristiques typiques du syndrome associé à SATB2, auxquelles s'ajoutent, de manière inconstante, des anomalies congénitales cardiovasculaires, génito-urinaires et ectodermiques dues à l'implication de gènes adjacents."},"de":{"name":"Mikrodeletionssyndrom 2q32q33","synonyms":["Del(2)(q32q33)","Monosomie 2q32q33"],"definition":"Ein seltenes autosomales Deletionssyndrom, das durch einen variablen Phänotyp gekennzeichnet ist, der eine mittelschwere bis schwere Intelligenzminderung, Verhaltensstörungen, Kleinwuchs, Mikrozephalie, dysplastische Nägel, spärliches Haar, Gaumenspalte und dysmorphe kraniofaziale Merkmale umfasst. Die Deletion umfasst in der Regel das <i>SATB2</i>-Gen und die Patienten weisen die typischen Merkmale des SATB2-assoziierten Syndroms auf, zu denen noch ein variables Muster kardiovaskulärer, urogenitaler und ektodermaler kongenitaler Anomalien aufgrund der Beteiligung benachbarter Gene kommt."},"es":{"name":"Síndrome de deleción 2q32q33","synonyms":["Del(2)(q32q33)","Monosomía 2q32q33"],"definition":"Es un síndrome poco frecuente de deleción autosómica parcial caracterizado por un fenotipo variable que incluye discapacidad intelectual de moderada a grave, trastornos de conducta, talla baja, microcefalia, displasia ungueal, cabello escaso, paladar hendido y rasgos craneofaciales dismórficos. La deleción suele incluir el gen <i>SATB2</i>, y los pacientes presentan las características típicas del síndrome asociado a SATB2, además de un patrón variable de anomalías cardiovasculares, genitourinarias y ectodérmicas congénitas debido a la afectación de genes adyacentes."},"it":{"name":"Sindrome da microdelezione 2q32q33","synonyms":["Del(2)(q32)","Del(2)(q32q33)","Monosomia 2q32","Monosomia 2q32-q33","Monosomia 2q32q33","Sindrome da microdelezione 2q32-q33"]},"nl":{"name":"2q32q33-deletiesyndroom","synonyms":["Del(2)(q32q33)","Monosomie 2q32q33"],"definition":"Een zeldzaam partiële autosomale deletiesyndroom, gekenmerkt door een variabel fenotype met onder meer matige tot ernstige intellectuele achterstand, gedragsproblemen, kleine gestalte, microcefalie, dysplastische nagels, schaars haar, gespleten gehemelte en dysmorfe craniofaciale kenmerken. De deletie omvat het gen <i>SATB2</i>, en patiënten presenteren zich met de typische kenmerken van SATB2-geassocieerd syndroom, met bijkomend een variabel patroon van cardiovasculaire, urogenitale, en ectodermale congenitale anomalieën vanwege de betrokkenheid van aangrenzende genen."},"pt":{"name":"Síndrome de deleção 2q32q33","synonyms":["Del(2)(q32q33)","Monossomia 2q32q33"],"definition":"Monossomia autossómica rara caracterizada por um fenótipo variável com perturbação do desenvolvimento intelectual moderada a grave, problemas comportamentais, baixa estatura, microcefalia, unhas displásicas, cabelo esparso, fenda palatina e características craniofaciais dismórficas."},"pl":{"name":"Zespół mikrodelecji 2q32q33","synonyms":["Del(2)(q32)","Del(2)(q32q33)","Monosomia 2q32","Monosomia 2q32q33","Monosomia 2q32-q33","Zespół mikrodelecji 2q32-q33"],"definition":"Rzadki zespół częściowej delecji autosomu, charakteryzujący się zmiennym fenotypem, obejmującym umiarkowaną do ciężkiej niepełnosprawność intelektualną, zaburzenia zachowania, niski wzrost, małogłowie, dysplastyczne paznokcie, skąpe owłosienie, rozszczep podniebienia oraz dysmorficzne cechy twarzoczaszki. Delecja zazwyczaj obejmuje gen SATB2 i u pacjentów występują typowe cechy zespołu związanego z tym genem, dodatkowo z obecnością zmiennego zestawu wrodzonych wad układu sercowo-naczyniowego, moczowo-płciowego oraz wad ektodermalnych, związanych z zajęciem sąsiednich genów."},"cs":{"name":"Sydrom mikrodelece 2q32q33","synonyms":["Syndrom mikrodelece 2q32-q33","Del(2)(q32)","Del(2)(q32q33)","Monozomie 2q32","Monozomie 2q32-q33","Monozomie 2q32q33"]},"uk":{"name":"Синдром мікроделеції 2q32q33","synonyms":["Del(2)(q32)","Del(2)(q32q33)","Моносомія 2q32","Моносомія 2q32q33"],"definition":"A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features."},"zh":{"name":"染色体2q32q33微缺失综合征","synonyms":["2q32q33单体"],"definition":"2q32q33微缺失综合征是新近报道的一种以中、重度智能障碍、言语障碍、持续性喂养困难、生长迟缓和畸形为特征的多变表型综合征。"},"tr":{"name":"2q32q33 mikrodelesyon sendromu","synonyms":["Del (2) (q32)","Monozomi 2q32","Del (2) (q32q33)","Monozomi 2q32q33"]}},"xrefs":[{"source":"OMIM","code":"612313","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2015922071"},{"source":"MONDO","code":"0012864","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304531","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":262010,"name":"Partial deletion of the long arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SATB2","name":"SATB homeobox 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16179223[PMID]","hgnc":"21637","ensembl":"ENSG00000119042","omim":"608148","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","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:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100024","label":"Conspicuously happy disposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002546","label":"Incomprehensible speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Occasional (29-5%)","criteria":null}]}}