Omenn syndrome
ORPHA: 39041
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 Omenn syndrome, sourced from HPO and Orphanet clinical annotations.
Nephrotic syndromeHypothyroidismAbnormal metaphysis morphologyDry skinEdemaPruritusErythrodermaThickened skinFailure to thriveAlopeciaSplenomegalyShort toeIncreased total eosinophil countAnemiaFeverIncreased total leukocyte countChronic diarrheaPneumoniaHepatomegalyLymphomaLymphadenopathyAutoimmunityAbnormal lymphocyte morphologySevere combined immunodeficiencyDesquamation of skin soon after birthThyroiditisSepsisAplasia/Hypoplasia of the eyebrow
Classification & Codes
Orphanet Code
ORPHA:39041Omenn syndrome
| Orphanet | ORPHA:39041 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO