{"orpha":495818,"name":"9q33.3q34.11 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(9)(q33.3q34.11)","Deletion 9q33.3q34.11","Monosomy 9q33.3q34.11"],"definition":"A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-495818/","orphanet_url":"https://www.orpha.net/en/disease/detail/495818","names":{"fr":{"name":"Syndrome de microdélétion 9q33.3q34.11","synonyms":["Del(9)(q33.3q34.11)","Délétion 9q33.3q34.11","Monosomie 9q33.3q34.11"],"definition":"Monosomie partielle du bras long du chromosome 9 caractérisée par une déficience intellectuelle, un retard de développement et un retard du langage prononcé, une petite taille et une hypotonie musculaire. La dysmorphie cranio-faciale la plus courante se traduit par une microcéphalie, un front proéminent, un visage rond, les sourcils arqués, une inclinaison vers le haut des fentes palpébrales, un strabisme, un nez court et une lèvre supérieure fine. Les autres signes cliniques observés sont l'épilepsie, l'ataxie, des observations non spécifiques en IRM cérébrale, une dystonie primaire à apparition précoce, une dysplasie unguéale et des malformations osseuses, en particulier des malformations rotuliennes, des épistaxis et des télangiectasies cutanéo-muqueuses."},"de":{"name":"Mikrodeletionssyndrom 9q33.3q34.11","synonyms":["Del(9)(q33.3q34.11)","Deletion 9q33.3q34.11","Monosomie 9q33.3q34.11"],"definition":"Eine seltene Chromsomenanomalie, infolge einer partiellen Monosomie des langen Arms von Chromosom 9. Die Störung ist gekennzeichnet durch Intelligenzminderung, Entwicklungsverzögerung mit ausgeprägter Sprachverzögerung, Kleinwuchs und muskuläre Hypotonie. Häufige kraniofaziale Dysmorphien sind Mikrozephalie, prominente Stirn, rundes Gesicht, gewölbte Augenbrauen, aufsteigende Lidachsen, Strabismus, kurze Nase und dünne Oberlippe. Weitere klinische Befunde sind Epilepsie, Ataxie, unspezifische MRT-Befunde des Gehirns, früh einsetzende primäre Dystonie, Nageldysplasie und Fehlbildungen der Knochen, insbesondere Kniescheibenanomalien, Epistaxis und Teleangiektasien der Haut und Schleimhäute."},"es":{"name":"Síndrome de microdeleción 9q33.3q34.11","synonyms":["Del(9)(q33.3q34.11)","Deleción 9q33.3q34.11","Monosomía 9q33.3q34.11"],"definition":"Es una monosomía parcial del brazo largo del cromosoma 9 caracterizada por discapacidad intelectual, retraso psicomotor acompañado de un grave retraso del habla, talla baja e hipotonía muscular. Los rasgos dismórficos craneofaciales frecuentes incluyen microcefalia, frente prominente, cara redondeada, cejas arqueadas, fisuras palpebrales ascendentes, estrabismo, nariz corta y labio superior delgado. Otras características clínicas adicionales incluyen epilepsia, ataxia, hallazgos inespecíficos en la neuroimagen, distonía primaria de inicio temprano, displasia ungueal y malformaciones óseas, en particular anómalías patelares, epistaxis y telangiectasias mucocutáneas."},"it":{"name":"Sindrome da microdelezione 9q33.3q34.11","definition":"Si tratta di una monosomia parziale del braccio lungo del cromosoma 9, caratterizzata da disabilità intellettiva, ritardo dello sviluppo con marcato ritardo del linguaggio, bassa statura e ipotonia muscolare. I dismorfismi craniofacciali caratteristici comprendono la microcefalia, la fronte prominente, il viso arrotondato, le sopracciglia arcuate, le rime palpebrali oblique verso l'alto, lo strabismo, il naso corto e il labbro superiore sottile. Altri segni clinici sono l'epilessia, l'atassia, le anomalie aspecifiche alla RMN del cervello, la distonia primitiva ad esordio precoce, la displasia delle unghie, le malformazioni scheletriche (in particolare le anomalie della rotula), l'epistassi e le teleangectasie muco-cutanee."},"nl":{"name":"9q33.3q34.11-microdeletiesyndroom","synonyms":["Deletie 9q33.3q34.11","Monosomie 9q33.3q34.11","Del(9)(q33.3q34.11)"],"definition":"Een partiële monosomie van de lange arm van chromosoom 9, gekenmerkt door intellectuele achterstand, ontwikkelingsachterstand met uitgesproken spraakachterstand, kleine gestalte, en spierhypotonie. Gangbare craniofaciale dysmorfe kenmerken zijn microcefalie, prominent voorhoofd, rond aangezicht, gebogen wenkbrauwen, opwaarts hellende ooglidspleten, strabisme, korte neus, en dunne bovenlip. Overige klinische bevindingen zijn onder meer epilepsie, ataxie, aspecifieke bevindingen van MRI van hersenen, vroeg aanvangende primaire dystonie, nageldysplasie, en botmalformaties, vooral afwijkingen van patella, epistaxis, en cutane-muceuze teleangiëctasie."},"pt":{"name":"Síndrome de microdeleção 9q33.3q34.11"},"pl":{"name":"Zespół mikrodelecji 9q33.3q34.11","synonyms":["Del(9)(q33.3q34.11)","Deletion 9q33.3q34.11","Monosomy 9q33.3q34.11"]},"cs":{"name":"Mikrodeleční syndrom 9q33.3q34.11","synonyms":["Del(9)(q33.3q34.11)","Deletion 9q33.3q34.11","Monosomy 9q33.3q34.11"]},"uk":{"name":"Синдром мікроделеції 9q33.3q34.11","synonyms":["Del(9)(q33.3q34.11)","Делеція 9q33.3q34.11","Моносомія 9q33.3q34.11"],"definition":"A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias."},"zh":{"name":"9q33.3q34.11微缺失综合征","synonyms":["9q33.3q34.11单体"]},"tr":{"name":"9q33.3q34.11 mikrodelesyon sendromu","synonyms":["Del(9)(q33.3q34.11)","Delesyon 9q33.3q34.11","Monozomi 9q33.3q34.11"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044641","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680085","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"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":262074,"name":"Partial deletion of the long arm of chromosome 9 syndrome","classifications":[147,156]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"LMX1B","name":"LIM homeobox transcription factor 1 beta","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26395556[PMID]","hgnc":"6654","ensembl":"ENSG00000136944","omim":"602575","loci":["9q33.3"]},{"symbol":"STXBP1","name":"syntaxin binding protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26395556[PMID]","hgnc":"11444","ensembl":"ENSG00000136854","omim":"602926","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26395556[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26395556[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-14","source":"26395556[PMID]","terms":[{"hpo":"HP:0200005","label":"Abnormal shape of the palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011822","label":"Broad chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","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:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010665","label":"Bilateral coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006471","label":"Fixed elbow flexion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011825","label":"Tented philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}