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Prenatal-onset spinal muscular atrophy with congenital bone fractures

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Spinal muscular atrophy with congenital bone fractures
SNOMED CT: Prenatal-onset spinal muscular atrophy with congenital bone fractures (1172689007)
Monarch Initiative: MONDO:0000209
OMIM® Phenotypic series: PS616866
Orphanet: ORPHA486811


A rare genetic motor neuron disease with characteristics of 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 fibre-size variation and grouping of larger type I fibres. The disease is usually fatal in infancy due to respiratory failure. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrenatal-onset spinal muscular atrophy with congenital bone fractures

Recent clinical studies


Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M
Am J Hum Genet 2016 Mar 3;98(3):473-489. Epub 2016 Feb 25 doi: 10.1016/j.ajhg.2016.01.006. PMID: 26924529Free PMC Article

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