autosomal recessive hypohidrotic ectodermal dysplasia

MeSH: D053360ORPHA: 248

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR receptor or EDAR-associated death domain protein

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 hypohidrotic ectodermal dysplasia, sourced from HPO and Orphanet clinical annotations.

Dry skinAbnormal fingernail morphologyFine hairPremature loss of primary teethAbnormal toenail morphologyHypoplasia of teethHypohidrosisAbnormal hair morphologyAlopeciaAbnormal dental morphology

Classification & Codes

MeSH Code

D053360

Orphanet Code

ORPHA:248

autosomal recessive hypohidrotic ectodermal dysplasia

MeSH	`D053360`
Orphanet	`ORPHA:248`
Treatments	0 drug(s)
Symptoms on record	10 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO