BRESEK syndrome
MeSH: C564519ORPHA: 85284
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 BRESEK syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismVesicoureteral refluxRenal hypoplasiaRenal dysplasiaCleft palateHydrocephalusMicrocephalyHearing impairmentLow-set earsProtruding earConvex nasal ridgeMicrophthalmiaOptic nerve hypoplasiaIris colobomaPostaxial hand polydactylyGlobal developmental delayPlagiocephalyGrowth delayIntrauterine growth retardationAlopeciaAganglionic megacolonScoliosisHemivertebraeHypoplasia of the bladderIchthyosisDecreased testicular sizeSevere intellectual disabilityAbnormal brain morphology
Classification & Codes
MeSH Code
C564519Orphanet Code
ORPHA:85284BRESEK syndrome
| MeSH | C564519 |
| Orphanet | ORPHA:85284 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO