autosomal recessive palmoplantar keratoderma and congenital alopecia
MeSH: C535336ORPHA: 1366
Overview
ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation
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 autosomal recessive palmoplantar keratoderma and congenital alopecia, sourced from HPO and Orphanet clinical annotations.
Visual impairmentCataractPalmoplantar keratodermaAtypical scarring of skinJoint stiffnessSubcutaneous noduleAlopecia totalisAplasia/Hypoplasia of the skinNail dystrophyLack of skin elasticity
Classification & Codes
MeSH Code
C535336Orphanet Code
ORPHA:1366autosomal recessive palmoplantar keratoderma and congenital alopecia
| MeSH | C535336 |
| Orphanet | ORPHA:1366 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO