{"orpha":2673,"name":"Neurofaciodigitorenal syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Freire Maia-Pinheiro-Opitz syndrome"],"definition":"Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2673/","orphanet_url":"https://www.orpha.net/en/disease/detail/2673","names":{"fr":{"name":"Syndrome neuro-facio-digito-rénal","synonyms":["Syndrome de Freire Maia-Pinheiro-Opitz"],"definition":"Le syndrome neuro-facio-digito-rénal est un syndrome rare d'anomalies multiples du développement caractérisé par des anomalies neurologiques (incluant une mégalencéphalie, une hypotonie, un déficit intellectuel, un électroencéphalogramme anormal), une dysmorphie faciale (front très proéminent, pointe nasale présentant un sillon, ptosis, anomalies auriculaires) et des anomalies acro-rénales (telles qu'un triphalangisme, des pouces larges, une agénésie rénale unilatérale). Un retard de croissance intra-utérin, une petite taille et des anomalies cardiaques congénitales peuvent être associées. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1997."},"de":{"name":"Neuro-fazio-digito-renales Syndrom","synonyms":["Freire-Maia-Pinheiro-Opitz -Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen Entwicklungsanomalien, das durch neurologische Anomalien (u. a. Megalenzephalie, Hypotonie, Intelligenzminderung, abnormales EEG), dysmorphe Gesichtsmerkmale (hohe prominente Stirn, Anomalien der Nasenspitze, Ptosis, Ohranomalien) und akrorenale Defekte (wie Triphalangismus, breite Großzehen, einseitige Nierenagenesie) gekennzeichnet ist. Zusätzlich können intrauterine Wachstumsrestriktion, Kleinwuchs und angeborene Herzfehler assoziiert sein. Seit 1997 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome neuro-facio-dígito-renal","synonyms":["Síndrome de Freire-Maia-Pinheiro-Opitz"],"definition":"El síndrome neuro-facio-digito-renal es un síndrome poco frecuente de anomalías múltiples del desarrollo caracterizado por anomalías neurológicas (incluyendo megalencefalia, hipotonía, discapacidad intelectual, EEG anómalo), rasgos faciales dismórficos (frente alta prominente, punta nasal acanalada, ptosis, anomalías de las orejas) y defectos acrorrenales (tales como trifalangismo, dedos gordos del pie muy anchos, agenesia renal unilateral). También puede estar asociada una restricción del crecimiento intrauterino, baja estatura y defectos cardíacos congénitos. Desde 1997 no ha habido más descripciones en la literatura."},"it":{"name":"Sindrome neuro-facio-digito-renale","synonyms":["Sindrome di Freire-Maia-Pinheiro-Opitz"],"definition":"La sindrome neuro-facio-digito-renale è una malattia rara da difetti multipli dello sviluppo, caratterizzata da anomalie neurologiche (megalencefalia, ipotonia, disabilità intellettiva, anomalie all'EEG), dismorfismi facciali (fronte alta e prominente, presenza di solchi sulla punta del naso, ptosi, anomalie dell'orecchio) e difetti acrorenali (trifalangismo, alluci larghi, agenesia renale monolaterale). Possono essere presenti anche ritardo della crescita intrauterina, bassa statura e cardiopatie congenite. Non sono stati descritti nuovi casi dopo il 1997."},"nl":{"name":"Neurofaciodigitorenaal syndroom","synonyms":["Syndroom van Freire-Maia-Pinheiro-Opitz"],"definition":"Neuro-facio-digito-renaal syndroom is zeldzaam syndroom met multipele ontwikkelingsanomalieën dat wordt gekarakteriseerd door neurologische afwijkingen (waaronder megalencefalie, hypotonie, intellectuele achterstand, abnormaal EEG), dysmorfe gelaatskenmerken (hoog uitgesproken voorhoofd, gegroefde neuspunt, ptose, oorafwijkingen) en acrorenale defecten (zoals trifalangisme, brede halluces, unilaterale agenesie van de nier). Bijkomend kunnen intra-uteriene groeirestrictie, kleine gestalte en congenitale hartdefecten geassocieerd zijn. Sinds 1997 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome neuro-facio-digito-renal","synonyms":["Síndrome Freire-Maia-Pinheiro-Opitz"]},"pl":{"name":"Zespół nerwowo-twarzowo-palcowo-nerkowy","synonyms":["Zespół Freire Maia, Pinheiro i Opitza"]},"cs":{"name":"Neurofaciodigitorenální syndrom","synonyms":["Freire Maiaův-Pinheirové-Opitzův syndrom","Freire Maia-Pinheiro-Opitzův syndrom"]},"uk":{"name":"Нейрофаціодигіторенальний синдром","synonyms":["Синдром Фрейре Майя-Пінхейро-Опітца"],"definition":"Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997."},"zh":{"name":"神经面指肾综合征","synonyms":["Freire-Maia-Pinheiro-Opitz综合征"]},"tr":{"name":"Neurofasiyodijitorenal sendromu","synonyms":["Freire Maia-Pinheiro-Opitz sendromu"]}},"xrefs":[{"source":"OMIM","code":"256690","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009740","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796088","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3964","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":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"7081297[PMID]_9354842[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7081297[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009912","label":"Abnormal tragus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009896","label":"Abnormality of the antitragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010650","label":"Hypoplasia of the premaxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","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:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009832","label":"Abnormal distal phalanx morphology of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Frequent (79-30%)","criteria":null}]}}