Pretzel syndrome
MeSH: C567020ORPHA: 500533
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 Pretzel syndrome, sourced from HPO and Orphanet clinical annotations.
MacrocephalySeizureHypotoniaGlobal developmental delayMegalencephalyPolyhydramniosAbnormal facial shapeInfantile spasmsVentriculomegalyCerebral white matter hypoplasiaPeriventricular white matter hyperintensitiesNephrocalcinosisWide mouthOpen mouthNarrow faceFacial hypotoniaHigh foreheadDiabetes insipidusAbsent speechJoint hypermobilityFailure to thriveAtrial septal defectCongestive heart failureStatus epilepticusDroolingFocal impaired awareness seizureHighly arched eyebrowDecreased muscle massSevere muscular hypotoniaTented upper lip vermilionInterictal epileptiform activitySevere global developmental delayFeeding difficultiesAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C567020Orphanet Code
ORPHA:500533Pretzel syndrome
| MeSH | C567020 |
| Orphanet | ORPHA:500533 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO