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

ectodermal dysplasia 17 with or without limb malformations - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia 17 with or without limb malformations

MONDO:0979228

Overview

GeneticsAutosomal recessive, Autosomal dominant

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: Preaxial hand polydactyly, Delayed eruption of teeth, Ridged nail, and Taurodontia and others; and common findings: Short stature, Sparse eyebrow, Dry skin, and Oligodontia and others. 55 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	9	Preaxial hand polydactyly, Toe syndactyly, Split hand

Diagnosis

Biomarker and diagnostic research for ectodermal dysplasia 17 with or without limb malformations has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 11 common 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 17 with or without limb malformations.

202 publications have been identified in PubMed for ectodermal dysplasia 17 with or without limb malformations. Kisho has analyzed 141 by research type. Research spans Review / Meta-Analysis (28%), Case Report / Case Series (25%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Research summaries	40	28%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621224

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

ectodermal dysplasia 17 with or without limb malformations

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ectodermal dysplasia 17 with or without limb malformations

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications