{"orpha":467176,"name":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-467176/","orphanet_url":"https://www.orpha.net/en/disease/detail/467176","names":{"fr":{"name":"Syndrome d'hypotonie sévère-retard de développement psychomoteur-strabisme-défaut du septum cardiaque","definition":"Myopathie congénitale non dystrophique rare, d'origine génétique, caractérisée par l'apparition néonatale d'une hypotonie généralisée sévère associée à un léger retard psychomoteur, à un strabisme congénital avec paralysie du nerf abducens et des malformations septales auriculaires et/ou ventriculaires. La cryptorchidie est souvent décrite chez les patients de sexe masculin et la biopsie musculaire révèle généralement une variabilité accrue de la taille des fibres musculaires."},"de":{"name":"Schwere Hypotonie-psychomotorische Entwicklungsverzögerung-Strabismus-Septumdefekt-Syndrom"},"es":{"name":"Síndrome grave de hipotonía-retraso del desarrollo psicomotor-estrabismo-defecto septal cardíaco","definition":"Es una miopatía congénita no distrófica, genética y poco frecuente, caracterizada por el inicio neonatal de hipotonía generalizada grave, leve retraso psicomotor, estrabismo congénito, parálisis del sexto par craneal y comunicación interauricular y/o interventricular. En pacientes varones es muy común la criptorquidia. Por lo general, la biopsia muscular revela aumento de la variabilidad en el tamaño de la fibra muscular."},"it":{"name":"Sindrome da ipotonia grave, ritardo dello sviluppo psicomotorio, strabismo e difetto del setto cardiaco","definition":"La sindrome che associa ipotonia grave, ritardo dello sviluppo psicomotorio, strabismo e difetto del setto cardiaco è una miopatia congenita rara non distrofica, di origine genetica, che esordisce nel periodo neonatale con ipotonia importante generalizzata, lieve ritardo psicomotorio, strabismo congenito con paralisi del nervo abducente e difetti del setto interatriale e/o interventricolare. Spesso i maschi presentano criptorchidismo. La biopsia dei muscoli in genere evidenzia un'elevata variabilità delle dimensioni delle fibre muscolari."},"nl":{"name":"Ernstige hypotonie - psychomotorische ontwikkelingsachterstand - strabisme - cardiaal septumdefect-syndroom","definition":"Ernstige hypotonie - psychomotorische ontwikkelingsachterstand - strabisme - cardiaal septumdefect-syndroom is een zeldzame, genetische, niet-dystrofische, congenitale myopathie die gekarakteriseerd wordt door neonatale aanvang van ernstige, gegeneraliseerde hypotonie geassocieerd met milde psychomotorische achterstand, congenitaal strabisme met zenuwverlamming van de nervus abducens, en atrium- en/of ventrikelseptumdefecten. Veelal wordt cryptorchisme gerapporteerd bij mannelijke patiënten en spierbiopsie toont doorgaans verhoogde variabiliteit de omvang van spiervezels."},"pt":{"name":"Síndrome grave de hipotonia-alterações do desenvolvimento psicomotor-estrabismo-defeito septal cardíaco"},"pl":{"name":"Zespół ciężkiej hipotonii, opóźnienia psycho-ruchowego, zeza i wady przegrody serca","definition":"*Zespół ciężkiej hipotonii, opóźnienia psychoruchowego, zeza i wady przegrody serca jest rzadką, genetycznie uwarunkowaną, wrodzoną miopatią bez dystrofii mięśni, która charakteryzuje się ciężką uogólnioną hipotonią o początku w okresie noworodkowym, związaną z łagodnym opóźnieniem psychoruchowym, wrodzonym zezem z porażeniem nerwu odwodzącego i wadami przegrody międzyprzedsionkowej i/lub międzykomorowej serca. U chłopców często opisywano wnętrostwo, a w biopsji mięśnia widoczna jest zwiększoną zmienność wielkości włókien mięśniowych. inf brsup"},"cs":{"name":"Syndrom těžké hypotonie, psychomotorického opoždění, strabismu a defektu komorového septa"},"uk":{"name":"Синдром тяжкої гіпотонії-затримки психомоторного розвитку-косоокості-дефекту міжпередсердної перегородки","definition":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size."},"zh":{"name":"严重肌张力低下-精神运动发育迟缓-斜视-心脏间隔缺损综合征","definition":"重度肌张力低下-精神运动发育迟缓-斜视-心室间隔缺损综合征是一种罕见遗传性非营养不良性先天性肌病，其特征是新生儿期发病的重度全身性肌张力低下伴有轻度精神运动发育迟缓、先天性斜视伴有外展神经麻痹、房室和（或）室间隔缺损。隐睾症常见于男性患者，肌肉活检通常会发现肌肉纤维大小的变异性增加。"},"tr":{"name":"Ağır hipotoni-psikomotor gelişme geriliği-şaşılık-kardiyak septal defekt sendromu"}},"xrefs":[{"source":"OMIM","code":"616816","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014784","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"CCDC174","name":"coiled-coil domain containing 174","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26358778[PMID]","hgnc":"28033","ensembl":"ENSG00000154781","omim":"616735","loci":["3p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26358778[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26358778[PMID]"}],"phenotypes":null}