anhidrotic ectodermal dysplasia
ORPHA: 238468
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 anhidrotic ectodermal dysplasia, sourced from HPO and Orphanet clinical annotations.
Nephrotic syndromeAbnormality of the dentitionXerostomiaSinusitisHypoplasia of the maxillaAnteverted naresDry skinHyperkeratosisThin skinEczematoid dermatitisHypohidrosisKeratoconjunctivitis siccaFailure to thriveAbnormal nail morphologyAbnormal facial shapeFrontal bossingSlow-growing hairAbnormal abdominal wall morphologyAbnormal dental morphologyIrregular hyperpigmentationTooth agenesisTrichorrhexis nodosaAbnormality of immune system physiologyGeneralized hypopigmentation of hairAbnormal hair quantityThick vermilion borderCoughInflammatory abnormality of the eyeCognitive impairmentBreast aplasiaAplasia/Hypoplasia of the eyebrow
Classification & Codes
Orphanet Code
ORPHA:238468anhidrotic ectodermal dysplasia
| Orphanet | ORPHA:238468 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO