caudal regression syndrome

ICD-10: Q76.4ORPHA: 3027

Overview

congenital disorder in humans caused by abnormal fetal development of the lower spine

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with caudal regression syndrome, sourced from HPO and Orphanet clinical annotations.

Bowel incontinenceAbnormal pelvic girdle bone morphologyDecreased muscle massAbnormal vertebral segmentation and fusionHypoplastic vertebral bodiesAplasia/Hypoplasia of the sacrumAbnormal iliac wing morphologyImpulsivityAbnormality of the ureterUreteral duplicationVesicoureteral refluxEctopic kidneyRenal agenesisReduced tendon reflexesJoint stiffnessTalipes equinovarusAnal atresiaScoliosisAbnormal cardiovascular system morphologyCryptorchidismAmbiguous genitaliaRenal insufficiencyOrofacial cleftHypertensionMissing ribsPulmonary hypoplasiaArrhinencephalyChiari malformation

Classification & Codes

ICD-10 Code

Q76.4

Orphanet Code

ORPHA:3027
caudal regression syndrome
ICD-10Q76.4
OrphanetORPHA:3027
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO