{"orpha":79507,"name":"Hypotonia-failure to thrive-microcephaly syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LTC4 synthase deficiency","Leukotriene C4 synthase deficiency"],"definition":"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79507/","orphanet_url":"https://www.orpha.net/en/disease/detail/79507","names":{"fr":{"name":"Syndrome d'hypotonie-retard staturo-pondéral-microcéphalie","synonyms":["Déficit en leucotriène-C4 synthétase"],"definition":"Maladie neurométabolique du développement extrêmement rare et létale, caractérisée cliniquement par une hypotonie musculaire, un retard psychomoteur, un retard de croissance staturo-pondérale et une microcéphalie."},"de":{"name":"Hypotonie - Gedeihstörungen - Mikrozephalie","synonyms":["Leukotrien-C4 (LTC4)-Synthase-Mangel"],"definition":"Der Leukotrien-C4-Synthase-Mangel ist eine extrem seltene und schwere neurometabolische Entwicklungstörung mit Muskelhypotonie, psychomotorischer Retardierung, Gedeihstörung und Mikrozephalie."},"es":{"name":"Síndrome de hipotonía-falta de crecimiento-microcefalia","synonyms":["Deficiencia de leucotrieno C4 (LTC4) sintetasa","Deficiencia de leucotrieno C4 sintasa (LTC4S)"],"definition":"El déficit de leucotrieno C4 sintasa es un trastorno letal del desarrollo neurometabólico extremadamente poco frecuente que se caracteriza clínicamente por hipotonía muscular, retraso psicomotor, retraso en el desarrollo, y microcefalia."},"it":{"name":"Ipotonia - ritardo di crescita - microcefalia","synonyms":["Deficit di leucotriene C4 (LTC4) sintasi"],"definition":"Il deficit di leucotriene C4 sintasi è una malattia letale, estremamente rara, dello sviluppo neurometabolico; è caratterizzata da ipotonia muscolare, ritardo psicomotorio, ritardo dello sviluppo e microcefalia."},"nl":{"name":"Hypotonie - niet-gedijen - microcefalie-syndroom","synonyms":["Deficiëntie van LTC4-synthase","Deficiëntie van leukotrieen C4-synthase"],"definition":"Een uiterst zeldzame fatale neurometabole ontwikkelingsstoornis, klinisch gekenmerkt door spierhypotonie, psychomotorische achterstand, niet-gedijen, en microcefalie."},"pt":{"name":"Síndrome de hipotonia-má evolução estaturoponderal-microcefalia","synonyms":["Deficiência de LTC4 sintetase","Deficiência de leucotrieno C4 sintase"]},"pl":{"name":"Hipotonia - zahamowanie wzrostu - mikrocefalia","synonyms":["Niedobór syntazy leukotrienu C4","Niedobór syntazy LTC4"]},"cs":{"name":"Syndrom zahrnující hypotonii, neprospívání a mikrocefalii","synonyms":["Deficit LCT4 syntázy","Deficit leukotrien C4 syntázy"]},"uk":{"name":"Синдром гіпотонії-відставання в розвитку-мікроцефалії","synonyms":["Дефіцит синтази лейкотрієну С4","Дефіцит синтази LTC4"],"definition":"Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly."},"zh":{"name":"肌张力低下-发育停滞-小头畸形综合征","synonyms":["白三烯C4合成酶缺乏症"]},"tr":{"name":"Hipotoni-gelişme bozukluğu-mikrosefali sendromu","synonyms":["LTC4 sentaz eksikliği","Lökotrien C4 sentaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614037","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013539","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565439","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279662","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10896305[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10896305[PMID]"}],"phenotypes":null}