{"orpha":1621,"name":"3q13 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(3)(q13)","Monosomy 3q13"],"definition":"3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1621/","orphanet_url":"https://www.orpha.net/en/disease/detail/1621","names":{"fr":{"name":"Syndrome de microdélétion 3q13","synonyms":["Del(3)(q13)","Monosomie 3q13"],"definition":"Le syndrome de microdélétion 3q13 est un syndrome d'anomalie chromosomique rare causé par la délétion partielle du bras long du chromosome 3. Le phénotype peut varier fortement, mais il est surtout caractérisé par un important retard de développement, une croissance post-natale supérieure à la moyenne, une hypotonie musculaire et une dysmorphie faciale (incluant un front large et proéminent, un hypertélorisme, des plis épicanthaux, des fentes palpébrales obliques en bas et en dehors, un ptosis, un philtrum court, des lèvres protrusives, une lèvre inférieure charnue, un palais ogival). Des organes génitaux masculins hypoplasiques et des anomalies squelettiques sont fréquemment retrouvés."},"de":{"name":"Mikrodeletionssyndrom 3q13","synonyms":["Del(3)(q13)","Monosomie 3q13"],"definition":"Das Mikrodeletionssyndrom 3q13 ist ein seltenes chromosomale Anomalie, die durch eine partielle Deletion des langen Arms von Chromosom 3 entsteht. Der Phänotyp kann sehr variabel sein, ist aber in erster Linie durch eine signifikante Entwicklungsverzögerung, postnatales Wachstum über dem Median, muskuläre Hypotonie und ausgeprägte Gesichtsmerkmale (wie breite und prominente Stirn, Hypertelorismus, epikantische Falten, antimongoloide schräge Augen, Ptosis, kurzes Philtrum, vorstehende Lippen mit voller Unterlippe, hochgewölbter Gaumen) gekennzeichnet. Abnormale hypoplastische männliche Genitalien und Skelettanomalien sind häufig vorhanden."},"es":{"name":"Síndrome de microdeleción 3q13","synonyms":["Del(3)(q13)","Monosomía 3q13"],"definition":"El síndrome de microdeleción 3q13 es un síndrome de anomalías cromosómicas poco frecuente que resulta de una deleción parcial del brazo largo del cromosoma 3. El fenotipo puede ser altamente variable, aunque se caracteriza principalmente por un retraso significativo del desarrollo, crecimiento postnatal por encima de la media, hipotonía muscular y rasgos faciales distintivos (tales como frente amplia y prominente, hipertelorismo, pliegues epicánticos, hendidura palpebral antimongoloide, ptosis, surco nasolabial corto, labios prominentes con labio inferior grueso, paladar alto y arqueado). Por lo general, están presentes los genitales masculinos hipoplásicos anómalos y las anomalías esqueléticas."},"it":{"name":"Sindrome da microdelezione 3q13","synonyms":["Del(3)(q13)","Monosomia 3q13"],"definition":"La sindrome da microdelezione 3q13 è un'anomalia cromosomica rara causata dalla delezione parziale del braccio lungo del cromosoma 3. Il quadro clinico è molto variabile, ma di solito è caratterizzato da grave ritardo dello sviluppo, crescita postnatale superiore alla media, ipotonia muscolare e dismorfismi caratteristici (fronte ampia e prominente, ipertelorismo, epicanto, rime palpebrali oblique in basso e verso l'esterno, ptosi, filtro corto, labbra prominenti, labbro inferiore carnoso, palato ogivale). Spesso sono presenti ipoplasia dei genitali maschili e anomalie scheletriche."},"nl":{"name":"3q13-microdeletiesyndroom","synonyms":["Del(3)(q13)","Monosomie 3q13"],"definition":"3q13 microdeletiesyndroom is een zeldzame chromosomale anomalie die het gevolg is van een partiële deletie van de lange arm van chromosoom 3. Het fenotype kan sterk variëren, maar de aandoening wordt voornamelijk gekarakteriseerd door significante ontwikkelingsachterstand, een bovengemiddelde postnatale groei, musculaire hypotonie en typische gelaatskenmerken (zoals een breed en uitgesproken voorhoofd, hypertelorisme, amandelogen, anti-mongoloïde oogstand, ptose, een kort filtrum, uitstekende lippen met een volle onderlip, hoog gebogen verhemelte). Vaak zijn ook abnormale hypoplastische mannelijke genitaliën en skeletafwijkingen aanwezig."},"pt":{"name":"Síndrome de microdeleção 3q13","synonyms":["Deleção 3q13","Monossomia 3q13"]},"pl":{"name":"Zespół mikrodelecji 3q13","synonyms":["Del(3)(q13)","Monosomia 3q13"]},"cs":{"name":"Syndrom 3q13 mikrodelece","synonyms":["Del(3)(q13)","Monozomie 3q13"]},"uk":{"name":"Синдром мікроделеції 3q13","synonyms":["Del(3)(q13)","Моносомія 3q13"],"definition":"3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present."},"zh":{"name":"3q13微缺失综合征","synonyms":["3q13单体"]},"tr":{"name":"3q13 mikrodelesyon sendromu","synonyms":["Del(3)(q13)","Monozomi 3q13"]}},"xrefs":[{"source":"OMIM","code":"615433","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1045303250"},{"source":"MONDO","code":"0014185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536808","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931338","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262019,"name":"Partial deletion of the long arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":42.0,"area":"Worldwide","status":"Validated","source":"24650298[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24650298[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}