{"orpha":3101,"name":"Richieri Costa-da Silva syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Myotonia-intellectual disability-skeletal anomalies syndrome"],"definition":"Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3101/","orphanet_url":"https://www.orpha.net/en/disease/detail/3101","names":{"fr":{"name":"Syndrome de Richieri-Costa-da Silva","synonyms":["Syndrome de myotonie-déficience intellectuelle-anomalies squelettiques"],"definition":"Syndrome myotonique rare d'origine génétique, caractérisé par l'apparition infantile d'une myotonie sévère et progressive (avec hypertrophie musculaire généralisée et trouble progressif de la marche), une petite taille, des anomalies du squelette (pectus carinatum, vertèbres thoracolombaires courtes et cunéiformes, cyphoscoliose, genu valgum, épiphyse fémorale irrégulière) et une déficience intellectuelle légère à modérée. Aucune dysmorphie faciale ni aucune limitation de la mobilité articulaire n'est associée. Aucun cas n'a été décrit dans la littérature depuis 1984."},"de":{"name":"Richieri-Costa-da-Silva-Syndrom","synonyms":["Myotonie-Intelligenzminderung-Skelettanomalie-Syndrom"]},"es":{"name":"Síndrome de Richieri Costa-da Silva","synonyms":["Síndrome de miotonia-discapacidad intelectual-anomalías esqueléticas"],"definition":"Es un síndrome miotónico genético y poco frecuente, de inicio en la infancia, caracterizado por miotonía progresiva y grave (con hipertofia muscular generalizada y deterioro progresivo de la marcha), talla baja, anomalías esqueléticas (incluido pectus excavatum, vértebras toracolumbares con pérdida de altura y en forma de cuña, cifoescoliosis, genu valgo, epífisis femorales irregulares) y deficiencia intelectual de leve a moderada. Este síndrome no asocia dismorfia facial ni limitación articular. No ha habido más casos descritos en la literatura desde 1984."},"it":{"name":"Sindrome di Richieri Costa-da Silva","synonyms":["Sindrome miotonia-disabilità intellettiva-anomalie scheletriche"],"definition":"La sindrome di Richieri Costa-da Silva è una sindrome miotonica genetica rara ad esordio infantile, caratterizzata da miotonia progressiva grave (ipertrofia muscolare generalizzata e deficit progressivi della deambulazione), bassa statura, anomalie scheletriche (pectus carinatum, vertebre toracolombari corte e cuneiformi, cifoscoliosi, ginocchio valgo, epifisi femorali irregolari) e deficit intellettivo lieve-moderato. Non sono presenti dismorfismi facciali né limitazioni dei movimenti articolari. Non sono stati descritti nuovi casi dopo il 1984."},"nl":{"name":"Syndroom van Richieri Costa-da Silva","synonyms":["Myotonie - intellectuele achterstand - skeletanomalieën-syndroom"],"definition":"Syndroom van Richieri Costa-da Silva is een zeldzaam, genetisch, myotonisch syndroom dat gekarakteriseerd wordt door aanvang in de kindertijd van progressieve en ernstige myotonie (met gegeneraliseerde musculaire hypertrofie en progressieve gangstoornis), kleine gestalte, skeletafwijkingen (waaronder pectus carinatum (kippenborst), korte en wigvormige thoracolumbale wervels, kyfoscoliose, genu valgum (X-benen), onregelmatige femorale epifysen), en milde tot matige intellectuele deficiëntie. Faciale dysmorfie of beperking van bewegingsvrijheid van gewrichten zijn niet geassocieerd. Sinds 1984 verschenen er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Richieri Costa-da Silva","synonyms":["Síndrome de miotonia-perturbação do desenvolvimento intelectual-anomalias esqueléticas"]},"pl":{"name":"Zespół Richieri Costa i da Silva","synonyms":["Miotonia - niepełnosprawność intelektualna - wady szkieletu"]},"cs":{"name":"Richieri Costův-da Silvův syndrom","synonyms":["Syndrom zahrnující myotonii, mentální retardaci a anomálie skeletu","Richieri Costa-da Silvův syndrom"]},"uk":{"name":"Синдром Річчієрі Коста-да Сільва","synonyms":["Синдром міотонії - інтелектуальної недостатності - скелетних аномалій"],"definition":"Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984."},"zh":{"name":"Richieri Costa-da Silva综合征","synonyms":["肌强直-智力障碍-骨骼异常综合征"]},"tr":{"name":"Richieri Costa-da Silva sendromu","synonyms":["Miyotoni-zihinsel yetersizlik-iskelet anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"255710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009716","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535675","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930978","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206973,"name":"Congenital myotonia","classifications":[156,181]},{"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":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"6716408[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6716408[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-14","source":"6716408[PMID]","terms":[{"hpo":"HP:0006462","label":"Generalized bone demineralization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012899","label":"Handgrip myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012903","label":"Myotonia of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005638","label":"Decreased anterioposterior diameter of lumbar vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100288","label":"EMG: myokymic discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008422","label":"Vertebral wedging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007156","label":"Asymmetric limb muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Excluded (0%)","criteria":null}]}}