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Caudal regression syndrome

Disease definition

A rare congenital malformation of the lower spinal segments characterized by either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.

ORPHA:3027

Classification level: Disorder
  • Synonym(s):
    • Caudal dysgenesis syndrome
    • Caudal dysplasia
    • Caudal regression sequence
  • Prevalence: Unknown
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q76.0
  • OMIM: 600145
  • UMLS: C0300948  C0344490  C1867774  C2609260
  • MeSH: -
  • GARD: 6007
  • MedDRA: 10054842  10059387  10068896
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