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

C535336

Orphanet Code

ORPHA:1366
autosomal recessive palmoplantar keratoderma and congenital alopecia
MeSHC535336
OrphanetORPHA:1366
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO