{"orpha":2139,"name":"Hernández-Aguirre Negrete syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-epilepsy-bulbous nose syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2139/","orphanet_url":"https://www.orpha.net/en/disease/detail/2139","names":{"fr":{"name":"Syndrome de Hernández-Aguirre Negrete","synonyms":["Syndrome de déficience intellectuelle-épilepsie-nez bulbeux"],"definition":"Anomalies congénitales multiples / syndrome dysmorphique rare caractérisé par un retard global de développement, une légère déficience intellectuelle, des convulsions, une obésité et une dysmorphie faciale (nez large et bulbeux, philtrum proéminent, bouche large). Les autres caractéristiques rapportées sont des pieds plats, une scoliose et un spina bifida occulta. L'IRM cérébrale peut révéler une légère dilatation ventriculaire."},"de":{"name":"Hernández-Aguirre-Negrete-Syndrom","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine globale Entwicklungsverzögerung, eine leichte Intelligenzminderung, Krampfanfälle, Adipositas und Gesichtsdysmorphien (u. a. bulböse Nase, vorstehendes Philtrum, breiter Mund) gekennzeichnet ist. Zusätzlich werden bilateraler Pes planus, Skoliose und Spina bifida occulta berichtet. Die MRT des Gehirns kann eine leichte ventrikuläre Dilatation zeigen."},"es":{"name":"Síndrome de Hernández-Aguirre Negrete","synonyms":["Síndrome de discapacidad intelectual-epilepsia-nariz bulbosa"],"definition":"Es un síndrome dismórfico/con anomalías congénitas múltiples poco frecuente caracterizado por retraso global del desarrollo, discapacidad intelectual leve, crisis, obesidad y rasgos faciales dismórficos (incluyendo nariz grande y bulbosa, filtrum prominente y boca amplia). Otros rasgos descritos incluyen el pie plano bilateral, la escoliosis y la espina bífida oculta. La RM cerebral puede mostrar una leve dilatación ventricular."},"it":{"name":"Sindrome di Hernández-Aguirre Negrete","synonyms":["Deficit cognitivo - epilessia - naso globoso","Sindrome deficit cognitivo-epilessia-naso globoso"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva lieve, crisi epilettiche, obesità e dismorfismi facciali (naso grande e globoso, filtro prominente, bocca larga). I pazienti possono presentare anche piede piatto bilaterale, scoliosi e spina bifida occulta. La RMN cerebrale evidenzia una lieve dilatazione dei ventricoli."},"nl":{"name":"Syndroom van Hernández-Aguirre Negrete","synonyms":["Intellectuele achterstand - epilepsie - knolvormige neus-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand, milde intellectuele achterstand, insulten, obesitas, en dysmorfe gelaatskenmerken (waaronder grote knolvormige neus, prominent filtrum, brede mond). Bijkomend gerapporteerde kenmerken zijn bilaterale pes planus (platvoet), scoliose, en spina bifida occulta. MRI van hersenen toont mogelijk milde dilatatie van ventrikels."},"pt":{"name":"Síndrome Hernández-Aguirre-Negrete","synonyms":["Síndrome de perturbação do desnvolvimento intelectual-epilepsia-nariz bolboso"]},"pl":{"name":"Zespół Hernandeza i Aguirre Negrete","synonyms":["Niepełnosprawność intelektualna - padaczka - kartoflowaty nos"]},"cs":{"name":"Hernandézův Aguirre-Negretův syndrom","synonyms":["Syndrom zahrnující mentální retardaci, epilepsii a bulbózní nos","Hernandéz Aguirre-Negretův syndrom"]},"uk":{"name":"Синдром Ернандеса-Агірре Негрете","synonyms":["Синдром інтелектуальної недостатності - епілепсіі - бульбоподібного носа"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation."},"zh":{"name":"Hernßndez-Aguirre Negrete综合征","synonyms":["智力障碍-癫痫-蒜头鼻综合征"]},"tr":{"name":"Hernßndez-Aguirre Negrete sendromu","synonyms":["Zihinsel yetersizlik-epilepsi-soğan şeklinde burun sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016290","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538112","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931736","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","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:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null}]}}