urofacial syndrome
MeSH: C536480ORPHA: 2704
Overview
autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding
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 urofacial syndrome, sourced from HPO and Orphanet clinical annotations.
Recurrent urinary tract infectionsUrinary incontinenceCryptorchidismVesicoureteral refluxRenal insufficiencyHydronephrosisUrethral obstructionHypertensionPolydipsiaConstipationBowel incontinence
Classification & Codes
MeSH Code
C536480Orphanet Code
ORPHA:2704urofacial syndrome
| MeSH | C536480 |
| Orphanet | ORPHA:2704 |
| Treatments | 0 drug(s) |
| Symptoms on record | 11 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO