Orphanet: Caudal regression syndrome

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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.


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
  • MeSH: -
  • GARD: 6007
  • MedDRA: 10054842  10059387  10068896
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