{"orpha":73246,"name":"Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73246/","orphanet_url":"https://www.orpha.net/en/disease/detail/73246","names":{"fr":{"name":"Syndrome de neuropathie viscérale-anomalies cérébrales-dysmorphie-retard du développement","definition":"Anomalies congénitales multiples/syndrome dysmorphique d'origine génétique rare caractérisé par un retard de développement, un trouble de la motilité viscérale d'origine neuropathique (entraînant une mégavessie neurologique et parfois un syndrome de pseudo-obstruction intestinale chronique), des calcifications intracérébrales et une dysmorphie faciale (front large, fentes palpébrales inclinées vers le bas, strabisme, oreilles décollées d'implantation basse et rétrognathie). Des microcéphalies et des anomalies rénales ont également été rapportées."},"de":{"name":"Viszerale Neuropathie-Gehirnanomalien-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom","definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit Entwicklungsverzögerung, neuropathischer viszeraler Dysmotilität (die zu neurogener Megazystitis und manchmal zu chronischer intestinaler Pseudoobstruktion führt), intrazerebralen Verkalkungen und Gesichtsdysmorphien (einschließlich breiter Stirn, schräg abwärts verlaufender Lidspalten, Strabismus, abstehender und tief angesetzter Ohren und Retrognathie). Es wurde auch über Mikrozephalie und Nierenanomalien berichtet."},"es":{"name":"Síndrome de neuropatía visceral-anomalías cerebrales-dismorfia facial-retraso del desarrollo","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas, de origen genético, y poco frecuente caracterizado por retraso psicomotor, dismotilidad visceral neuropática (que resulta en megavejiga -ver nota al pie- neurogénica y, en ocasiones, en síndrome de pseudo-obstrucción intestinal crónica), calcificaciones intracerebrales y rasgos faciales dismórficos (incluyendo frente ancha, fisuras palpebrales inclinadas hacia abajo, estrabismo, orejas prominentes de implantación baja y retrognatia). También se ha descrito microcefalia y anomalías renales."},"it":{"name":"Sindrome neuropatia viscerale-anomalie cerabrali-dismorfismi facciali-ritardo dello sviluppo","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo, dismotilità viscerale neuropatica (che esita nella megacistite neurogena e, talvolta, nella sindrome da pseudo-ostruzione intestinale cronica), calcificazioni intracerebrali e dismorfismi facciali (fronte ampia, rime palpebrali oblique verso il basso, strabismo, orecchie prominenti a basso impianto e retrognazia). Sono stati descritti pazienti con microcefalia e anomalie renali."},"nl":{"name":"Viscerale neuropathie - hersenanomalieën - faciale dysmorfie - ontwikkelingsachterstand-syndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door ontwikkelingsachterstand, neuropathische viscerale motiliteitsstoornis (resulterend in neurogene megacystis en soms syndroom van chronische intestinale pseudo-obstructie), intracerebrale verkalkingen, en dysmorfe gelaatskenmerken (waaronder breed voorhoofd, schuin naar beneden hellende ooglidspleten, strabisme, afstaande en laagstaande oren, en retrognathie). Microcefalie en nieranomalieën werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de neuropatia visceral-anomalias do cérebro-dismorfia facial-perturbação do desenvolvimento"},"pl":{"name":"Neuropatia narządowa - anomalie mózgu - dysmorfia twarzy - opóźnienie rozwoju"},"cs":{"name":"Syndrom zahrnující viscerální neuropatii, anomálie mozku, faciální dysmorfismus a opožděný vývoj"},"uk":{"name":"Синдром вісцеральної нейропатії-аномалії розвитку головного мозку-дисморфізму обличчя-затримки розвитку","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported."},"zh":{"name":"内脏神经病变-脑异常-面部畸形-发育迟缓综合征"},"tr":{"name":"Viseral nöropati-beyin anomalileri-fasiyal dismorfizm-gelişme geriliği sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019133","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304402","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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16378921[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16378921[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"16378921[PMID]","terms":[{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010956","label":"Fetal megacystis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004389","label":"Intestinal pseudo-obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007678","label":"Lacrimal duct stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null}]}}