holoprosencephaly-caudal dysgenesis syndrome
ORPHA: 2165
Overview
human disease
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 holoprosencephaly-caudal dysgenesis syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the genital systemRenal insufficiencyMedian cleft upper lipCleft palateMicrocephalyHypertelorismLow-set earsProptosisAbnormality of the skeletal systemHoloprosencephalyPremature birthAbnormal morphology of the radiusRadial ray deficiencyCyclopiaAbnormal diencephalon morphologyAbnormal cerebral vascular morphology
Classification & Codes
Orphanet Code
ORPHA:2165holoprosencephaly-caudal dysgenesis syndrome
| Orphanet | ORPHA:2165 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO