{"orpha":261279,"name":"17q23.1q23.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(17)(q23.1q23.2)","Monosomy 17q23.1q23.2"],"definition":"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261279/","orphanet_url":"https://www.orpha.net/en/disease/detail/261279","names":{"fr":{"name":"Syndrome de microdélétion 17q23.1q23.2","synonyms":["Del(17)(q23.1q23.2)","Monosomie 17q23.1q23.2"],"definition":"Le syndrome de microdélétion 17q23.1q23.2, récemment décrit, se caractérise par un retard du développement, une microcéphalie, une petite taille, une malformation cardiaque congénitale et des anomalies des membres."},"de":{"name":"Mikrodeletionssyndrom 17q23.1q23.2","synonyms":["Del(17)(q23.1q23.2)","Monosomie 17q23.1q23.2"],"definition":"Das kürzlich beschriebene 17q23.1q23.2-Mikrodeletion-Syndrom ist gekennzeichnet durch verzögerte Entwicklung, Mikrozephalie, Kleinwuchs, Herzfehler und Anomalien der Gliedmaßen."},"es":{"name":"Síndrome de microdeleción 17q23.1q23.2","synonyms":["Del(17)(q23.1q23.2)","Monosomía 17q23.1q23.2"],"definition":"El síndrome de microdeleción 17q23.1q23.2 es un síndrome descrito recientemente caracterizado por retraso psicomotor, microcefalia,talla baja, defectos cardíacos y anomalías en las extremidades."},"it":{"name":"Sindrome da microdelezione 17q23.1q23.2","synonyms":["Del(17)(q23.1q23.2)","Monosomia 17q23.1-q23.2","Monosomia 17q23.1q23.2","Sindrome da microdelezione 17q23.1-q23.2"],"definition":"La sindrome da microdelezione 17q23.1q23.2, descritta di recente, è caratterizzata da ritardo dello sviluppo, microcefalia, bassa statura, cardiopatie e anomalie degli arti."},"nl":{"name":"17q23.1q23.2-microdeletiesyndroom","synonyms":["Del(17)(q23.1q23.2)","Monosomie 17q23.1q23.2"],"definition":"Een syndroom, gekenmerkt door ontwikkelingsachterstand, microcefalie, kleine gestalte, hartdefecten, en afwijkingen van ledematen."},"pt":{"name":"Síndrome de microdeleção 17q23.1q23.2","definition":"A síndrome de microdeleção 17q23.1q23.2 é uma síndrome recentemente descrita caracterizada por atraso do desenvolvimento, microcefalia, baixa estatura, defeitos cardíacos e anomalias dos membros."},"pl":{"name":"Zespół mikrodelecji 17q23.1q23.2","synonyms":["Del(17)(q23.1q23.2)","Monosomia 17q23.1q23.2","Monosomia 17q23.1-q23.2","Zespół mikrodelecji 17q23.1-q23.2"]},"cs":{"name":"Syndrom mikrodelece 17q23.1q23.2","synonyms":["Del(17)(q23.1q23.2)","Monozomie 17q23.1-q23.2","Monozomie 17q23.1q23.2","17q23.1-q23.2 mikrodeleční syndrom"]},"uk":{"name":"Синдром мікроделеції 17q23.1q23.2","synonyms":["Del(17)(q23.1q23.2)","Моносомія 17q23.1q23.2"],"definition":"17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities."},"zh":{"name":"17q23.1q23.2微缺失综合征","synonyms":["17q23.1q23.2单体"],"definition":"17q23.1q23.2微缺失综合征是新近报道的一种以发育迟缓、小头畸形、身材矮小、心脏畸形和肢体畸形为特征的综合征。"},"tr":{"name":"17q23.1q23.2 mikrodelesyon sendromu","synonyms":["Del (17) (q23.1q23.2)","Monozomi 17q23.1q23.2"]}},"xrefs":[{"source":"OMIM","code":"613355","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.H0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1921075403"},{"source":"MONDO","code":"0013238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304591","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10936","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"TBX4","name":"T-box transcription factor 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21271665[PMID]","hgnc":"11603","ensembl":"ENSG00000121075","omim":"601719","loci":["17q23.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"20206336[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20206336[PMID]"}],"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:0100807","label":"Long fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003279","label":"Coxa magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","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:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003182","label":"Shallow acetabular fossae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Occasional (29-5%)","criteria":null}]}}