{"orpha":1788,"name":"Acrofacial dysostosis, Rodríguez type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1788/","orphanet_url":"https://www.orpha.net/en/disease/detail/1788","names":{"fr":{"name":"Dysostose acrofaciale type Rodríguez","definition":"Syndrome rare d'anomalies congénitales multiples, qui se caractérise par une hypoplasie mandibulaire sévère, une phocomélie des membres supérieurs avec olygodactylie, l'absence du péroné et un certain nombre d'autres anomalies squelettiques (hypoplasie de la scapula et des ailes iliaques, 11 côtes, pieds bots), anomalies faciales (hypertélorisme, hypoplasie des crêtes supra-orbitaires, une arête nasale large, microtie et implantation basse des oreilles) et des anomalies variables des organes internes (dont l'arhinencéphalie, les poumons hypolobulés et les malformations cardiaques congénitales), qui entraînent généralement la mort périnatale. Les patients ayant survécu présentent des caractéristiques similaires à celles du syndrome de Nagel."},"de":{"name":"Dysostose, akrofaziale, Typ Rodriguez","definition":"Ein sehr seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch eine schwere Hypoplasie des Unterkiefers, eine Phokomelie der oberen Extremitäten mit Olygodaktylie, eine fehlende Fibula und eine Reihe anderer Skelettanomalien (hypoplastische Scapula und Ischii, 11 Rippen, Klumpfüße) gekennzeichnet ist. Weitere charakteristische Merkmale sind Gesichtsanomalien (Hypertelorismus, hypoplastische supraorbitale Kämme, breiter Nasenrücken, Mikrotie mit tief angesetzten Ohren) und variable Anomalien der inneren Organe (einschließlich Arhinenzephalie, hypolobulierte Lungen und angeborene Herzfehler), die in der Regel zum perinatalen Tod führen. Die überlebenden Patienten weisen ähnliche Merkmale auf wie beim Nagel-Syndrom."},"es":{"name":"Disostosis acrofacial tipo Rodríguez","definition":"Es un síndrome malformativo, grave, poco frecuente, caracterizado por hipoplasia mandibular grave, focomelia de las extremidades superiores acompañada de oligodoctilia, ausencia de peroné y una serie de anomalías adicionales esqueléticas (escápula e isquios hipoplásicos, 11 costillas, pie zambo), faciales (hipertelorismo, arcos supraciliares hipoplásicas, puente nasal ancho, microtia con orejas de implantación baja) y diversas anomalías de los órganos internos (incluyendo arrinencefalia, pulmones hipolobulados y defectos cardíacos congénitos), que, por lo general, ocasionan la muerte perinatal. Los pacientes que sobreviven muestran características similares al síndrome de Nagel."},"it":{"name":"Disostosi acrofacciale tipo Rodríguez","definition":"Si tratta di una malattia rara e grave da anomalie congenite multiple, caratterizzata da ipoplasia mandibolare grave, focomelia degli arti superiori con oligodattilia, aplasia del perone, anomalie scheletriche (ipoplasia delle scapole e dell'ischio, 11 costole, piedi torti), dismorfismi facciali (ipertelorismo, arcate sopraorbitali ipoplastiche, sella nasale ampia, microtia con orecchie a basso impianto) e diverse anomalie degli organi interni (arinencefalia, polmoni ipolobulati e cardiopatie congenite), che di solito si associano a morte perinatale. I pazienti che sopravvivono presentano un quadro clinico simile a quello della sindrome di Nagel."},"nl":{"name":"Acrofaciale dysostose, Rodríguez-type","definition":"Een zeldzaam, ernstig syndroom met multipele congenitale anomalieën, gekarakteriseerd door ernstige hypoplasie van mandibula, focomelie van ledematen met oligodactylie, afwezigheid van kuitbeen, en een aantal bijkomende afwijkingen van skelet (hypoplastisch schouderblad en zitbeen, 11 ribben, klompvoet), aangezicht (hypertelorisme, hypoplastische supraorbitale randen, brede neusbrug, microtie met laagstaande oren) en verschillende inwendige organen (waaronder arhinencefalie, hypolobulaire longen, en congenitale hartdefecten), die meestal leiden tot perinatale sterfte. Patiënten die overleven vertonen kenmerken gelijkaardig aan die van syndroom van Nagel."},"pt":{"name":"Disostose acro-facial, tipo Rodriguez"},"pl":{"name":"Dyzostoza kończynowo-twarzowa, typ Rodrigueza"},"cs":{"name":"Akrofaciální dysostóza, Rodríguezův typ"},"uk":{"name":"Акрофаціальний дизостоз, тип Родрігеса","definition":"A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome."},"zh":{"name":"肢端-面骨发育不全，RodrÝguez型"},"tr":{"name":"Akrofasiyal disostoz, Rodriguez tipi"}},"xrefs":[{"source":"OMIM","code":"201170","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"782595225"},{"source":"MONDO","code":"0008714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538183","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860119","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"496","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"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":[{"symbol":"SF3B4","name":"splicing factor 3b subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27642715[PMID]","hgnc":"10771","ensembl":"ENSG00000143368","omim":"605593","loci":["1q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"18000904[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18000904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009380","label":"Finger aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}