{"orpha":261304,"name":"Paternal 20q13.2q13.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Paternal del(20)(q13.2q13.3)","Paternal monosomy 20q13.2q13.3"],"definition":"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261304/","orphanet_url":"https://www.orpha.net/en/disease/detail/261304","names":{"fr":{"name":"Syndrome de microdélétion 20q13.2q13.3 paternelle","synonyms":["Del(20)(q13.2q13.3) paternelle","Monosomie paternelle 20q13.q13.3"],"definition":"Le syndrome de microdélétion 20q13.2q13.3 paternelle, récemment décrit, se caractérise par un retard de croissance sévère pré et postnatal, une microcéphalie, des difficultés d'alimentation difficiles à prendre en charge, un retard psychomoteur léger, une hypotonie et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 20q13.2q13.3, paternal","synonyms":["Paternale Monosomie 20q13.2q13.3","del(20)(q13.2q13.3), paternal"],"definition":"Das kürzlich beschriebene Syndrom der paternalen 20q13.2q13.3-Mikrodeletion ist gekennzeichnet durch schwere prä- und postnatale Wachstumsretardierung, Mikrozephalie, unbeherrschbare Fütterprobleme, leichte psychomotorische Retardierung, Muskelhypotonie und faziale Dysmorphien."},"es":{"name":"Síndrome de microdeleción paterna 20q13","synonyms":["Del(20)(q13.2q13.3) paterna","Monosomía paterna 20q13.2q13.3"],"definition":"El síndrome de microdeleción 20q13.2q13.3 paterna es un síndrome descrito recientemente caracterizado por un retraso en el crecimiento pre- y post-natal grave, microcefalia, dificultades en la alimentación intratables, retraso psicomotor leve, hipotonía y dismorfismo facial."},"it":{"name":"Sindrome da microdelezione 20q13 paterna","synonyms":["Del(20)(q13) paterna","Monosomia 20q13 paterna"],"definition":"La sindrome da microdelezione 20q13.2q13.3 paterna, descritta di recente, è caratterizzata da grave ritardo della crescita pre- e postnatale, microcefalia, disturbi dell'alimentazione difficilmente trattabili, lieve ritardo psicomotorio, ipotonia e dismorfismi facciali."},"nl":{"name":"Paternale 20q13.2q13.3-microdeletiesyndroom","synonyms":["Paternale del(20)(q13.2q13.3)","Paternale monosomie 20q13.2q13.3"],"definition":"Een syndroom, gekenmerkt door ernstige pre- en postnatale groeiretardatie, microcefalie, onbehandelbare voedingsproblemen, milde psychomotorische achterstand, hypotonie, en faciale dysmorfie."},"pt":{"name":"Síndrome de microdeleção paterna de 20q13","synonyms":["Monossomia paterna de 20q13"],"definition":"A síndrome da microdeleção 20q13.2q13.3 paterna é uma síndrome recentemente descrita caracterizada por atraso do crescimento grave pré e pós-natal, microcefalia, dificuldades de alimentação intratáveis, atraso psicomotor ligeiro, hipotonia e dismorfismo facial."},"pl":{"name":"Zespół mikrodelecji ojcowskiej 20q13.2q13.3","synonyms":["Monosomia ojcowska 20q13.2q13.3","Monosomia ojcowska 20q13.2-q13.3","Ojcowska del(20)(q13.2q13.3)","Zespół mikrodelecji ojcowskiej 20q13.2-q13.3"]},"cs":{"name":"Syndrom paternální mikrodelece 20q13.2q13.3","synonyms":["Paternální del(20)(q13.2q13.3)","Paternální monozomie 20q13.2-q13.3","Paternální monozomie 20q13.2.q13.3","Paternální 20q13.2-q13.3 mikrodeleční syndrom"]},"uk":{"name":"Батьківський синдром мікроделеції 20q13.2q13.3","synonyms":["Батько del(20)(q13.2q13.3)","Батьківська моносомія 20q13.2q13.3"],"definition":"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism."},"zh":{"name":"父源20q13.2q13.3微缺失综合征","synonyms":["父源20q13.2q13.3单体"],"definition":"父系20q13.2q13.3微缺失综合征是新近报道的一种综合征，其特征是出生前和出生后严重的生长发育迟缓、小头畸形、顽固性喂养困难、轻度精神运动发育迟缓、肌张力低下和面部畸形。"},"tr":{"name":"Paternal 20q13.2q13.3 mikrodelesyon sendromu","synonyms":["Paternal del (20) (q13.2q13.3)","Paternal monozomi 20q13.2q13.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.L0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"821654086"},{"source":"MONDO","code":"0016842","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510306","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262164,"name":"Partial deletion of the long arm of chromosome 20 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":2.0,"area":"Worldwide","status":"Validated","source":"15915160[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15915160[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","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:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null}]}}