{"orpha":3102,"name":"Richieri Costa-Pereira syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome","Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome"],"definition":"Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3102/","orphanet_url":"https://www.orpha.net/en/disease/detail/3102","names":{"fr":{"name":"Syndrome de Richieri-Costa-Pereira","synonyms":["Syndrome de petite taille-syndrome de Pierre Robin-fente mandibulaire-anomalie des mains","Syndrome de petite taille-séquence de Pierre Robin-fente mandibulaire-anomalie des mains"],"definition":"Le syndrome de Richieri-Costa-Pereira est caractérisé par une petite taille, une séquence de Pierre-Robin, une fente manibulaire, des anomalies des mains pré- et postaxiales (dont une hypoplasie des pouces), et un pied bot. Il a été décrit chez 14 familles brésiliennes et chez un patient français non apparenté. Des oreilles proéminentes et bas implantées ainsi qu'un palais ogival sont également observés. Il s'agit d'un syndrome autosomique récessif."},"de":{"name":"Richieri-Costa-Pereira-Syndrom","synonyms":["Kleinwuchs - Pierre Robin-Sequenz - maxilläre Kieferspalte - Klumpfüße - Anomalien der Hände"],"definition":"Dieses Syndrom ist gekennzeichnet durch Minderwuchs, Robin-Sequenz, Unterkieferspalt, prä-/postaxiale Handanomalien (u.a. hypoplastische Daumen) und Klumpfuß."},"es":{"name":"Síndrome de Richieri Costa-Pereira","synonyms":["Talla baja-secuencia de Pierre Robin-fisura maxilar-anomalías de las manos-pie zambo","Talla baja-síndrome de Pierre Robin-fisura maxilar-anomalías de las manos-pie zambo"],"definition":"Es un síndrome caracterizado por talla baja, secuencia de Robin, mandíbula hendida, anomalías pre/postaxiales de la mano (incluyendo pulgares hipoplásicos) y pie zambo. Se ha descrito en 14 familias brasileñas y en un paciente francés no emparentado. También puede asociar orejas prominentes de inserción baja y paladar ojival. La transmisión es autosómica recesiva."},"it":{"name":"Sindrome di Richieri Costa-Pereira","synonyms":["Statura bassa - sequenza di Pierre Robin - schisi mascellare - piedi torti - anomalie delle mani","Statura bassa - sindrome di Pierre Robin - schisi mascellare - piedi torti - anomalie delle mani"]},"nl":{"name":"Syndroom van Richieri Costa-Pereira","synonyms":["Kleine gestalte - Pierre Robin sequentie - gespleten onderkaak - handanomalieën - klompvoet-syndroom","Kleine gestalte - syndroom van Pierre Robin - gespleten onderkaak - handanomalieën - klompvoet-syndroom"],"definition":"Een syndroom, gekenmerkt door kleine gestalte, Robin-sequentie, gespleten onderkaak, pre-/postaxiale handanomalieën (inclusief hypoplastische duimen), en klompvoet. Het werd beschreven bij 14 Braziliaanse families en één niet-gerelateerde Franse patiënt. Opmerkelijk laagstaande oren en een hoog gebogen gehemelte werden ook waargenomen. Transmissie gebeurt autosomaal recessief."},"pt":{"name":"Síndrome Richieri Costa-Pereira","synonyms":["Síndrome de baixa estatura-sequência Pierre Robin-fenda mandibular-anomalias das mãos-pé boto","Síndrome de baixa estatura-síndrome Pierre Robin-fenda mandibular-anomalias das mãos-pé boto"]},"pl":{"name":"Zespół Richieri Costa i Pereira","synonyms":["Niski wzrost - sekwencja Pierre'a Robina - rozszczep żuchwy - wady rąk - stopa końsko-szpotawa","Niski wzrost - zespół Pierre'a Robina - rozszczep żuchwy - wady rąk - stopa końsko-szpotawa"]},"cs":{"name":"Richieri Costův-Pereirové syndrom","synonyms":["Syndrom zahrnující nízký vzrůst, Pierre Robinovu sekvenci, rozštěp dolní čelisti, anomálie rukou a pes equinovarus congenitus","Syndrom zahrnující nízký vzrůst, Pierre Robinův syndrom, rozštěp dolní čelisti, anomálie rukou a pes equinovarus congenitus","Richieri Costa-Pereirové syndrom"]},"uk":{"name":"Синдром Річчієрі Коста-Перейра","synonyms":["Синдром нНизькорослості - послідовності Пєра Робена - розщілини нижньої щелепи - аномалії кистей рук - клишоногості","Синдром низькорослості - синдрома Пєра Робена - розщілини нижньої щелепи - аномалії кистей рук - клишоногості"],"definition":"Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive."},"zh":{"name":"Richieri Costa-Pereira综合征","synonyms":["身材矮小- pierre Robin综合征-下颌唇腭裂-手部畸形-马蹄内翻足综合征"]},"tr":{"name":"Richieri Costa-Pereira sendromu","synonyms":["Kısa boy-Pierre Robin dizisi-yarık mandibula-el anomalileri çarpık ayak sendromu","Kısa boy-Pierre Robin sendromu-yarık mandibula-el anomalileri çarpık ayak sendromu"]}},"xrefs":[{"source":"OMIM","code":"268305","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"107084177"},{"source":"MONDO","code":"0009998","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535677","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849348","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4718","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":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","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]}],"children":[],"genes":[{"symbol":"EIF4A3","name":"eukaryotic translation initiation factor 4A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24360804[PMID]","hgnc":"18683","ensembl":"ENSG00000141543","omim":"608546","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"23794199[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-23","source":"21271648[PMID]_29112243[PMID]_33504197[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006355","label":"Agenesis of mandibular central incisor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200154","label":"Agenesis of mandibular lateral incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000690","label":"Agenesis of maxillary lateral incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010752","label":"Cleft mandible","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012789","label":"Hypoplasia of the calcaneus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005011","label":"Mesomelic arm shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004987","label":"Mesomelic leg shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001245","label":"Small thenar eminence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008744","label":"Abnormal aryepiglottic fold morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011051","label":"Agenesis of premolar","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010565","label":"Aplasia/Hypoplasia of the Epiglottis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}