Hypohidrotic ectodermal dysplasia with immune deficiency
MeSH: C536181ORPHA: 98813
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 Hypohidrotic ectodermal dysplasia with immune deficiency, sourced from HPO and Orphanet clinical annotations.
Conical toothHypohidrosisEctodermal dysplasiaFailure to thriveGrowth delayRecurrent bacterial infectionsSparse hairAbnormal circulating immunoglobulin concentrationRecurrent otitis mediaChronic diarrheaInflammation of the large intestineChronic mucocutaneous candidiasisIncreased total B cell countRecurrent mycobacterial infectionsAbsent peripheral lymph nodes in presence of infectionIncreased total T cell countOsteopeniaEczematoid dermatitisDecreased circulating IgA concentrationDecreased circulating total IgMAutoimmunityIncreased circulating IgE concentrationIncreased circulating IgG concentrationIncreased circulating IgM levelDecreased circulating immunoglobulin concentrationDecreased circulating IgG concentrationNail dystrophyFeeding difficulties in infancyPedal edemaRecurrent sinusitisInvasive fungal infectionGenital edemaSevere viral infectionHypopituitarism
Classification & Codes
MeSH Code
C536181Orphanet Code
ORPHA:98813Hypohidrotic ectodermal dysplasia with immune deficiency
| MeSH | C536181 |
| Orphanet | ORPHA:98813 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO