{"orpha":217346,"name":"19q13.11 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Monosomy 19q13.11","Del(19)(q13.11)"],"definition":"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217346/","orphanet_url":"https://www.orpha.net/en/disease/detail/217346","names":{"fr":{"name":"Syndrome de microdélétion 19q13.11","synonyms":["Del(19)(q13.11)","Monosomie 19q13.11"],"definition":"Le syndrome de microdélétion 19q13.11 est caractérisé par un retard de croissance pré et postnatal, une morphologie gracile, des troubles sévères d'alimentation, une microcéphalie, un déficit intellectuel avec des troubles du langage, un hypospadias et une dysplasie ectodermique avec une aplasie du scalp, des cheveux, des sourcils et cils fins et clairsemés, une peau sèche et fine, et des ongles dysplastiques."},"de":{"name":"Mikrodeletionssyndrom 19q13.11","synonyms":["Del(19)(q13.11)","Monosomie 19q13.1"],"definition":"Die 19q13.11-Mikrodeletion ist gekennzeichnet durch mehrere große Symptome: Prä- und postnatale Wachstumsverzögerung, schlanker Habitus, schwere postnatale Fütterprobleme, Mikrozephalie, intellektuelles Defizit mit Sprachstörung, Hypospadie und ektodermale Dysplasie mit Aplasie der Kopfhaut, dünnen und spärlichen Haaren, Augenbrauen und Wimpern, dünner und trockener Haut und dysplastischen Nägeln."},"es":{"name":"Síndrome de microdeleción 19q13.11","synonyms":["Del(19)(q13.11)","Monosomía 19q13.11"],"definition":"El síndrome de microdeleción 19q13.11 se caracteriza por un retraso en el crecimiento pre y postnatal, hábito delgado, trastornos de alimentación, microcefalia, déficit intelectual con trastornos del habla, hipospadias y displasia ectodérmica con aplasia de cuero cabelludo; pelo, cejas y pestañas escasas, piel fina y seca y uñas displásicas."},"it":{"name":"Sindrome da microdelezione 19q13.11","synonyms":["Del(19)(q13.11)","Monosomia 19q13.1"],"definition":"La microdelezione 19q13.11 è caratterizzata da segni clinici importanti, che comprendono il ritardo della crescita pre- e postnatale, l'habitus gracile, i gravi disturbi dell'alimentazione, la microcefalia, il ritardo mentale con anomalie del linguaggio, l'ipospadia e la displasia ectodermica con aplasia della cute dello scalpo, i capelli, le sopracciglia e le ciglia radi, la cute sottile e secca e le unghie displastiche."},"nl":{"name":"19q13.11-microdeletiesyndroom","synonyms":["Del(19)(q13.11)","Monosomie 19q13.11"],"definition":"Een syndroom, gekenmerkt door verschillende hoofdkenmerken, waaronder pre- en postnatale groeiretardatie, slanke habitus, ernstige postnatale voedingsproblemen, microcefalie, intellectuele achterstand met spraakstoornis, hypospadie en ectodermale dysplasie aanwezig als aplasie van scalp, dun(ne) en schaars(e) haar, wenkbrauwen en wimpers, dunne en droge huid, en dysplastische nagels."},"pt":{"name":"Síndrome de microdeleção 19q13.11"},"pl":{"name":"Zespół mikrodelecji 19q13.11","synonyms":["Del(19)(q13.11)","Monosomia 19q13.11"]},"cs":{"name":"Mikrodeleční syndrom 19q13.11","synonyms":["Del(19)(q13.11)","Monozomie 19q13.11"]},"uk":{"name":"Синдром мікроделеції 19q13.11","synonyms":["Del(19)(q13.11)","Моносомія 19q13.11"],"definition":"The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails."},"zh":{"name":"19q13.11微缺失综合征","synonyms":["19q13.11单体"],"definition":"19q13.11微缺失的主要特征包括出生前和出生后生长迟缓、体型细长、严重的出生后喂养困难、小头畸形、伴有语言障碍的智力缺陷、尿道下裂，和以头皮缺损、头发稀疏、眉毛和睫毛稀疏、皮肤干燥和指甲发育不良为表现的外胚层发育不良。"},"tr":{"name":"19q13.11 mikrodelesyon sendromu","synonyms":["Del (19) (q13.11)","Monozomi 19q13.11"]}},"xrefs":[{"source":"OMIM","code":"613026","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617219","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.K0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1795118895"},{"source":"MONDO","code":"0013090","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10592","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":262155,"name":"Partial deletion of the long arm of chromosome 19 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"TSHZ3","name":"teashirt zinc finger homeobox 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"36553458[PMID]","hgnc":"30700","ensembl":"ENSG00000121297","omim":"614119","loci":["19q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"24243649[PMID]"},{"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:0001057","label":"Aplasia cutis congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","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:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}