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Spina bifida aperta
Disease definition
A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.
ORPHA:268369
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- 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: -
- MeSH: -
- GARD: -
- MedDRA: -
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