Primrose syndrome
MeSH: C536420ORPHA: 3042
Overview
medical condition
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 Primrose syndrome, sourced from HPO and Orphanet clinical annotations.
HypogonadismAbnormal palate morphologyHydrocephalusMacrotiaConductive hearing impairmentDownslanted palpebral fissuresCataractSynophrysPectus excavatumGynecomastiaNarrow chestIntellectual disabilitySeizureGait disturbancePlagiocephalyFlexion contractureAnonychiaAnemiaDevelopmental regressionScoliosisOsteolysisKyphosisNarrow iliac wingMyopathyHip contractureIrregular vertebral endplatesAbnormal form of the vertebral bodiesShort statureCalcification of the auricular cartilagePosterior scalloping of vertebral bodiesBilateral cryptorchidismMidface retrusionBone cyst
Classification & Codes
MeSH Code
C536420Orphanet Code
ORPHA:3042Primrose syndrome
| MeSH | C536420 |
| Orphanet | ORPHA:3042 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO