Netherton syndrome
ICD-10: Q80.8MeSH: D056770ORPHA: 634
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 Netherton syndrome, sourced from HPO and Orphanet clinical annotations.
Acanthosis nigricansEczematoid dermatitisUrticariaAbnormal hair morphologyMalabsorptionAsthmaSparse scalp hairFine hairIncreased circulating IgE concentrationIrregular hyperpigmentationCongenital nonbullous ichthyosiform erythrodermaIchthyosisTrichorrhexis nodosaImmunologic hypersensitivityIntellectual disabilitySeizureGlobal developmental delayEmphysemaRecurrent respiratory infectionsDecreased circulating immunoglobulin concentrationEctopic kidneyHydronephrosisSparse eyelashesDry skinSkin rashErythrodermaDehydrationRecurrent infectionsAminoaciduriaShort statureSparse eyebrowInflammationTrichorrhexis invaginata
Classification & Codes
ICD-10 Code
Q80.8MeSH Code
D056770Orphanet Code
ORPHA:634Netherton syndrome
| ICD-10 | Q80.8 |
| MeSH | D056770 |
| Orphanet | ORPHA:634 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO