Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

MONDO:0009150

Also known as:HEDH syndromeanother syndromeectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia

Overview

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.

GeneticsAutosomal recessive

ResearchLimited published research (2 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: Skin color changes (abnormality of skin pigmentation), Ciliary dyskinesia, Urticaria, and Hypohidrotic ectodermal dysplasia and 6 more.

Organ System	Phenotype Count	Example Features
Skin	3	Skin color changes (abnormality of skin pigmentation), Urticaria, Nail dysplasia

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome.

2 publications have been identified in PubMed for hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Syed H (2025). [PMID: 39928929](https://pubmed.ncbi.nlm.nih.gov/39928929/). *J Neurosurg Case Lessons*. [Case Report / Case Series]
Kapoor M (2024). [PMID: 39046107](https://pubmed.ncbi.nlm.nih.gov/39046107/). *Curr Opin Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:225050

Orphanet

European rare disease database

Orphanet:1882

GARD

Genetic and Rare Diseases Info Center

GARD:2049

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?

← Back to All Diseases

Kisho

hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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.

hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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.