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autosomal recessive hypohidrotic ectodermal dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive hypohidrotic ectodermal dysplasia

MONDO:0016619

Also known as:AR-HEDautosomal recessive anhidrotic ectodermal dysplasiahypohidrotic ectodermal dysplasia, autosomal recessive

Overview

A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Dry skin, Abnormal fingernail morphology, Fine hair, and Premature loss of primary teeth and others; and common findings: Decreased sweating (hypohidrosis), Alopecia, and Abnormal dental morphology.

Organ System	Phenotype Count	Example Features
Skin	3	Dry skin, Decreased sweating (hypohidrosis), Alopecia

Prognosis

Phenotype severity distribution: 7 very common features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive hypohidrotic ectodermal dysplasia.

7 publications have been identified in PubMed for autosomal recessive hypohidrotic ectodermal dysplasia. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (14%).

Recent Publications

Kovalskaia VA (2026). [PMID: 41645317](https://pubmed.ncbi.nlm.nih.gov/41645317/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Shimomura Y (2025). [PMID: 37407443](https://pubmed.ncbi.nlm.nih.gov/37407443/). *The Keio journal of medicine*. [Review / Meta-Analysis]
Mukhtar MA (2025). [PMID: 42232673](https://pubmed.ncbi.nlm.nih.gov/42232673/). *Pan Afr Med J*. [Case Report / Case Series]
Nejati P (2025). [PMID: 41408253](https://pubmed.ncbi.nlm.nih.gov/41408253/). *BMC medical genomics*. [Case Report / Case Series]
Reddy H (2024). [PMID: 38854244](https://pubmed.ncbi.nlm.nih.gov/38854244/). *Cureus*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 1:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:248

GARD

Genetic and Rare Diseases Info Center

GARD:2057

Questions for Your Care Team

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Kisho

autosomal recessive hypohidrotic ectodermal dysplasia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture: A case report.

autosomal recessive hypohidrotic ectodermal dysplasia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture: A case report.