Orphanet: Myelomeningocele

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Disease definition

A rare neural tube closure defect characterized by protrusion of the spinal cord and meninges from the spinal column into a fluid-filled sac at the location of the defect. Clinical signs are variable, depending on location and severity of the lesion, but may include bladder and bowel dysfunction, hydrocephalus, and/or partial or complete paralysis of the lower limbs, among others.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q05.0  Q05.1  Q05.2  Q05.3  Q05.4  Q05.5  Q05.6  Q05.7  Q05.8  Q05.9
  • OMIM: -
  • UMLS: C0025312
  • MeSH: -
  • GARD: 3475
  • MedDRA: -

Detailed information


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