{"orpha":3021,"name":"RAPADILINO syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies characterized by distinctive signs and facial associated features from which the acronym RAPADILINO is made: RA for radial ray defect, PA for patellae hypoplasia/aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3021/","orphanet_url":"https://www.orpha.net/en/disease/detail/3021","names":{"fr":{"name":"Syndrome RAPADILINO","definition":"Anomalies congénitales multiples rares caractérisées par des signes et des traits de visage distinctifs, à partir desquels l'acronyme RAPADILINO est issu&nbsp;: RA pour «&nbsp;radial ray defect&nbsp;» (anomalie du rayon radial), PA pour «&nbsp;patellae hypoplasia/aplasia&nbsp;» (hypoplasie/aplasie des rotules) mais aussi pour «&nbsp;cleft or highly arched palate&nbsp;» (fente palatine ou palais ogival), DI pour «&nbsp;diarrhea&nbsp;» (diarrhée) et «&nbsp;dislocated joints&nbsp;» (luxation articulaire), LI pour «&nbsp;little size&nbsp;» (petite taille) et «&nbsp;limb malformations&nbsp;» (malformations des membres) et NO pour «&nbsp;long, slender nose&nbsp;» (nez long et effilé) et «&nbsp;normal intelligence&nbsp;» (intelligence normale)."},"de":{"name":"RAPADILINO-Syndrom","definition":"Eine seltene multiple kongenitale Anomalie, die sich durch charakteristische Anzeichen und assoziierte Gesichtsmerkmale auszeichnet. Das Akronym ist von charakteristischen Merkmalen abgeleitet: RA für Radialis; PA für fehlende/hypoplastische Kniescheiben und Gaumenspalte/hochgewölbter Gaumen; DI für Durchfall sowie fehlgebildete Gelenke; LI für geringe Größe und Fehlbildungen der Gliedmaßen; und NO für lange, schlanke Nase und normale Intelligenz."},"es":{"name":"Síndrome RAPADILINO","definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente, caracterizado por signos distintivos y rasgos faciales asociados que dan nombre al acrónimo RAPADILINO: RA por defectos en la zona del hueso radial, PA por la hipoplasia/aplasia de rótula (patella) y paladar hendido u ojival, DI por la diarrea y luxaciones (dislocaciones) articulares, LI por la talla baja (Little size) y las malformaciones de las extremidades, NO por la nariz (nose) fina y alargada e inteligencia normal."},"it":{"name":"Sindrome RAPADILINO"},"nl":{"name":"RAPADILINO-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door typische verschijnselen en gelaatskenmerken waarvan (in het Engels) het acroniem RAPADILINO werd afgeleid: RA voor radiusdefect, PA voor hypoplasie/aplasie van patella en gespleten of hoog gebogen gehemelte, DI voor diarree en luxatie van gewrichten, LI voor kleine gestalte en ledemaatmalformaties, NO voor lange, slanke neus en normale intelligentie."},"pt":{"name":"Síndrome RAPADILINO","definition":"O síndrome de RAPADILINO é um síndrome cujo acrónimo indica os principais sinais: RA para deficiência do raio radial, PA para hipoplasia ou aplasia da patela e para fenda do palato ou palato alto e arqueado, DI para diarreia e luxação articular, LI para tamanho pequeno e malformações dos membros, NO para nariz longo e fino e inteligência normal."},"pl":{"name":"Zespół RAPADILINO"},"cs":{"name":"RAPADILINO syndrom"},"uk":{"name":"Синдром RAPADILINO","definition":"A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence."},"zh":{"name":"RAPADILINO综合征"},"tr":{"name":"RAPADILINO sendromu"}},"xrefs":[{"source":"OMIM","code":"266280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1439614760"},{"source":"MONDO","code":"0009955","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849453","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4637","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"RECQL4","name":"RecQ like helicase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12952869[PMID]_18716613[PMID]","hgnc":"9949","ensembl":"ENSG00000160957","omim":"603780","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"18716613[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18716613[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-17","source":"26064716[PMID]_33477564[PMID]_18716613[PMID]","terms":[{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000417","label":"Slender nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Excluded (0%)","criteria":null}]}}