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ectodermal dysplasia 6, hair/nail type (ECTD6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 6, hair/nail type

MONDO:0013974

Also known as:ECTD6

Overview

GeneticsAutosomal recessive

ResearchLimited published research (3 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 always present findings: Alopecia, Sparse body hair, Thin toenail, and Concave nail and others. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Alopecia, Concave nail
Arms and legs

Prognosis

Phenotype severity distribution: 6 always present features.

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 ectodermal dysplasia 6, hair/nail type.

3 publications have been identified in PubMed for ectodermal dysplasia 6, hair/nail type. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Ahmadkhani A (2026). [PMID: 41486137](https://pubmed.ncbi.nlm.nih.gov/41486137/). *J Med Case Rep*. [Review / Meta-Analysis]
Doğan Arı AB (2025). [PMID: 41062838](https://pubmed.ncbi.nlm.nih.gov/41062838/). *Eur J Pediatr*. [Basic Science / Preclinical]
Dev A (2024). [PMID: 38845644](https://pubmed.ncbi.nlm.nih.gov/38845644/). *Indian Dermatol Online J*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614928

GARD

Genetic and Rare Diseases Info Center

GARD:18064

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ectodermal dysplasia 6, hair/nail type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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