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Caudal regression syndrome

ORPHA:3027· ICD-10 Q76.0

Definition

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

Prevalence
Unknown
Inheritance
Multigenic/multifactorial, Not applicable
Age of onset
Antenatal, Neonatal