{"orpha":324410,"name":"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324410/","orphanet_url":"https://www.orpha.net/en/disease/detail/324410","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-cardiomégalie-insuffisance cardiaque congénitale","definition":"Déficience intellectuelle syndromique rare lié à l'X caractérisée par une déficience intellectuelle profonde, un retard global de développement avec absence de langage, des crises convulsives, des contractures des grandes articulations, une position anormale des pouces et l'apparition, chez des adultes d'âge moyen, d'une cardiomégalie et d'anomalies de la valve auriculo-ventriculaire entraînant par la suite une insuffisance cardiaque congestive. Les autres caractéristiques sont une dysmorphie faciale variable (à type de grandes oreilles avec un ourlet excessif du bord de l'hélice) et des testicules volumineux."},"de":{"name":"X-chromosomale Intelligenzminderung-Kardiomegalie-kongestive Herzinsuffizienz-Syndrom"},"es":{"name":"Síndrome de discapacidad intelectual-cardiomegalia-insuficiencia cardíaca congestiva ligado al cromosoma X","definition":"Es un trastorno poco frecuente de discapacidad intelectual sindrómica ligado al cromosoma X. Está caracterizado por discapacidad intelectual profunda, retraso global del desarrollo con ausencia del habla, crisis epilépticas, importantes contracturas articulares, posición anómala de los pulgares e inicio en la mediana edad de cardiomegalia y anomalías de la válvula atrioventricular, que conducen posteriormente a insuficiencia cardíaca congestiva. Otras características adicionales incluyen dismorfia facial variable (orejas notablemente agrandadas con hélix sobreplegadas) así como testículos grandes."},"it":{"name":"Sindrome deficit cognitivo legato all'X-cardiomegalia-insufficienza cardiaca congestizia","definition":"La sindrome che associa la disabilità intellettiva legata all'X, la cardiomegalia e l'insufficienza cardiaca congestizia è una malattia rara da disabilità intellettiva sindromica legata all'X, caratterizzata da disabilità intellettiva profonda, ritardo dello sviluppo globale, con assenza del linguaggio, crisi epilettiche, contratture delle grandi articolazioni, anomalie dell'impianto dei pollici, cardiomegalia ad esordio nella mezza età ed anomalie della valvola atrioventricolare, con conseguente insufficienza cardiaca congestizia. Inoltre possono essere presenti dismorfismi facciali variabili (in particolare le orecchie grandi con eccessiva plicatura dell'elice) e un ingrandimento dei testicoli."},"nl":{"name":"X-gebonden intellectuele achterstand - cardiomegalie - congestief hartfalen-syndroom","definition":"X-gebonden intellectuele achterstand - cardiomegalie - congestief hartfalen-syndroom is een zeldzame, X-gebonden, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door totale intellectuele achterstand algehele ontwikkelingsachterstand met afwezigheid van spraak, insulten, grote gewrichtscontracturen, abnormale positie van de duimen, en aanvang op middelbare leeftijd van cardiomegalie en atrioventriculaire klepafwijkingen, met congestief hartfalen tot gevolg. Bijkomende kenmerken zijn onder meer variabele faciale dysmorfie (vooral grote oren met overmatig geplooide helix) en grote teelballen."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual ligada ao X-cardiomegália-insuficiência cardíaca congestiva"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - kardiomegalia - niewydolność serca"},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, kardiomegalii a městnavé srdeční selhání"},"uk":{"name":"Х-зчеплений синдром розумової відсталості-кардіомегалія-застійної серцевої недостатності","definition":"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes."},"zh":{"name":"X连锁智力障碍-心脏扩大-充血性心力衰竭综合征","definition":"X连锁智力障碍-心脏扩大-充血性心力衰竭综合征是一种罕见的X连锁综合征性智力障碍，其特征是严重的智力障碍、整体发育迟缓伴语言缺失、癫痫发作、大关节挛缩、拇指位置异常以及中年起病的心脏扩大和房室瓣异常，最后导致充血性心力衰竭。其他特征包括多种面部畸形(特别是耳轮过度折叠的大耳朵)和大睾丸。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-kardiyomegali-konjestif kalp yetmezliği sendromu"}},"xrefs":[{"source":"OMIM","code":"300886","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CLIC2","name":"CLIC family member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22814392[PMID]","hgnc":"2063","ensembl":"ENSG00000155962","omim":"300138","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22814392[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":"2019-08-16","source":"21630357[PMID]_22814392[PMID]","terms":[{"hpo":"HP:0006705","label":"Abnormal atrioventricular valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005781","label":"Contractures of the large joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null}]}}