{"orpha":1545,"name":"Crisponi syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1545/","orphanet_url":"https://www.orpha.net/en/disease/detail/1545","names":{"fr":{"name":"Syndrome de Crisponi","definition":"Le syndrome Crisponi est une maladie grave caractérisée par des contractions musculaires présentes dès la naissance, une hyperthermie, des anomalies faciales et une camptodactylie."},"de":{"name":"Crisponi-Syndrom","definition":"Das Crisponi-Syndrom (CS) ist eine schwerwiegende Erkrankung mit Muskelkontraktionen bei Geburt, intermittierender Hyperthermie, fazialen Dysmorphien und Kamptodaktylie."},"es":{"name":"Síndrome de Crisponi","definition":"Es un trastorno grave caracterizado por contracturas musculares congénitas, hipertermia intermitente, anomalías faciales y camptodactilia."},"it":{"name":"Sindrome di Crisponi"},"nl":{"name":"Syndroom van Crisponi","definition":"Een ernstige aandoening, gekenmerkt door spiercontracties bij de geboorte, intermitterende hyperthermie, gelaatsafwijkingen, en camptodactylie."},"pt":{"name":"Síndrome Crisponi","definition":"A síndrome de Crisponi (CS) é uma doença grave caracterizada por contrações musculares ao nascimento, hipertermia intermitente, anomalias faciais e camptodactilia."},"pl":{"name":"Zespół Crisponiego"},"cs":{"name":"Crisponiho syndrom"},"uk":{"name":"Синдром Криспоні","definition":"Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly."},"zh":{"name":"Crisponi综合征"},"tr":{"name":"Crisponi sendromu"}},"xrefs":[{"source":"OMIM","code":"272430","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1658600991"},{"source":"MONDO","code":"0010091","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536214","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":401993,"name":"Cold-induced sweating syndrome-hyperthermia spectrum","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CLCF1","name":"cardiotrophin like cytokine factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20400119[PMID]_21370513[PMID]","hgnc":"17412","ensembl":"ENSG00000175505","omim":"607672","loci":["11q13.2"]},{"symbol":"CRLF1","name":"cytokine receptor like factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17436252[PMID]_21370513[PMID]","hgnc":"2364","ensembl":"ENSG00000006016","omim":"604237","loci":["19p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}