{"orpha":486811,"name":"Prenatal-onset spinal muscular atrophy with congenital bone fractures","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SMABF"],"definition":"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-486811/","orphanet_url":"https://www.orpha.net/en/disease/detail/486811","names":{"fr":{"name":"Amyotrophie spinale prénatale avec fractures congénitales des os","definition":"Maladie génétique rare du motoneurone caractérisée par une diminution ou une absence des mouvements foetaux, des contractures articulaires proximales et distales congénitales (évocateurs d'une l'arthrogrypose multiplex congénitale) et des fractures congénitales multiples des os longs. Les autres signes cliniques sont la détresse respiratoire néonatale, l'hypotonie musculaire sévère, l'aréflexie, la dysphagie, les malformations cardiaques congénitales et la dysmorphie faciale. La biopsie musculaire met en évidence une augmentation variable de la taille des fibres et un regroupement de fibres de type I de diamètre supérieur. La maladie est généralement létale dans les premières années de la vie."},"de":{"name":"Pränatale spinale Muskelatrophie mit kongenitalen Knochenbrüchen","synonyms":["SMABF"],"definition":"Eine genetisch bedingte Motoneuronenerkrankung, die durch verminderte oder fehlende fetale Bewegungen, angeborene proximale und distale Gelenkkontrakturen (wie bei Arthrogryposis multiplex congenita) und multiple angeborene Frakturen der langen Knochen gekennzeichnet ist. Weitere Manifestationen sind neonatale Atemnot, schwere muskuläre Hypotonie, Areflexie, Dysphagie, angeborene Herzfehler und Gesichtsdysmorphien. Die Muskelbiopsie zeigt eine erhöhte Variation der Fasergröße und eine Gruppierung größerer Typ-I-Fasern. Die Krankheit endet in der Regel im Säuglingsalter tödlich aufgrund von Atemversagen."},"es":{"name":"Atrofia muscular espinal de inicio prenatal con fracturas óseas congénitas","synonyms":["SMABF"],"definition":"Es una enfermedad de la motoneurona, de origen genético y poco frecuente caracterizada por la ausencia o disminución de los movimientos fetales, contracturas articulares proximales y distales congénitas (compatibles con la artrogriposis múltiple congénita) y fracturas múltiples congénitas de los huesos largos. Otras manifestaciones adicionales son distrés respiratorio neonatal, hipotonía muscular grave, arreflexia, disfagia, defectos cardíacos congénitos y rasgos faciales dismórficos. La biopsia muscular muestra una variabilidad incrementada en el tamaño de las fibras y un agrupamiento de las fibras de tipo I más grandes. La enfermedad suele ser mortal en la lactancia debido a la insuficiencia respiratoria."},"it":{"name":"Atrofia muscolare spinale ad esordio prenatale con fratture ossee congenite","definition":"Si tratta di una malattia genetica rara dei motoneuroni, caratterizzata dalla riduzione o dall'assenza dei movimenti fetali, contratture congenite delle articolazioni prossimali e distali (coerenti con l'artrogriposi multipla congenita) e fratture congenite multiple delle ossa lunghe. Altri segni clinici sono il distress respiratorio neonatale, l'ipotonia muscolare grave, l'areflessia, la disfagia, le cardiopatie congenite e i dismorfismi facciali. La biopsia muscolare evidenzia un aumento della variazione nelle dimensioni delle fibre e il raggruppamento delle fibre di tipo I di dimensioni maggiori. Di solito la malattia è letale nella prima infanzia a causa dell'insufficienza respiratoria."},"nl":{"name":"Spinale musculaire atrofie met congenitale botfracturen met prenatale aanvang","synonyms":["SMABF","Spinale spieratrofie met congenitale botbreuken met prenatale aanvang"],"definition":"Een zeldzame genetische motorneuronziekte, gekarakteriseerd door verminderde of afwezige foetale bewegingen, congenitale proximale en distale gewrichtscontracturen (consistent met arthrogryposis multiplex congenita), en multipele congenitale fracturen van pijpbeenderen. Overige manifestaties zijn neonatale ademnood, ernstige spierhypotonie, areflexie, dysfagie, congenitale hartdefecten, en dysmorfe gelaatskenmerken. Spierbiopsie toont toename van variatie van vezelgrootte en groepering van grotere type I vezels. De ziekte is meestal fataal in de zuigelingentijd als gevolg van respiratoir falen."},"pt":{"name":"Atrofia muscular espinhal de início pré-natal com fraturas ósseas congénitas"},"pl":{"name":"Prenatalny rdzeniowy zanik mięśni z wrodzonymi złamaniami kości","synonyms":["SMABF"]},"cs":{"name":"Spinální muskulární atrofie s prenatálním nástupem a s vrozenými zlomeninami","synonyms":["SMABF"]},"uk":{"name":"Пренатальна спінальна мязова атрофія з вродженими переломами кісток","synonyms":["SMABF"],"definition":"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure."},"zh":{"name":"出生后脊髓性肌萎缩伴先天性骨折","synonyms":["脊髓性肌萎缩伴骨折"],"definition":"一种罕见的遗传性运动神经元疾病，其特点是胎动减少或消失，先天性近端和远端关节挛缩（与多发性先天性关节挛缩一致）和多发性先天性长骨骨折。进一步表现为新生儿呼吸困难、严重的肌张力低下、反射消失、吞咽困难、先天性心脏缺陷、面部畸形特征。肌肉活检显示纤维大小变异增加，较大的I型纤维组合。本病通常在婴儿期因呼吸衰竭而致死。"},"tr":{"name":"Doğumsal kemik kırıkları ile seyreden doğum öncesi başlangıçlı spinal müsküler atrofi","synonyms":["SMABF"]}},"xrefs":[{"source":"OMIM","code":"616866","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616867","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0000209","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567518","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ASCC1","name":"activating signal cointegrator 1 complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26924529[PMID]_28218388[PMID]","hgnc":"24268","ensembl":"ENSG00000138303","omim":"614215","loci":["10q22.1"]},{"symbol":"TRIP4","name":"thyroid hormone receptor interactor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26924529[PMID]_28218388[PMID]","hgnc":"12310","ensembl":"ENSG00000103671","omim":"604501","loci":["15q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26924529[PMID]_28218388[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"26924529[PMID]_28218388[PMID]"}],"phenotypes":null}