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-cutaneous syndactyly syndrome (EDCS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia-cutaneous syndactyly syndrome

MONDO:0013313

Also known as:EDCSEDSS2ectodermal dysplasia-syndactyly syndrome 2

Overview

GeneticsAutosomal recessive

ResearchLimited published research (4 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: Enlarged heart (cardiomegaly), Ectodermal dysplasia, Enamel hypoplasia, and Congenital bullous ichthyosiform erythroderma and 7 more.

Organ System	Phenotype Count	Example Features
Skin	4	Congenital bullous ichthyosiform erythroderma, Excessive sweating (hyperhidrosis), Follicular hyperkeratosis

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 ectodermal dysplasia-cutaneous syndactyly syndrome.

4 publications have been identified in PubMed for ectodermal dysplasia-cutaneous syndactyly syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Nakato D (2025). [PMID: 40414526](https://pubmed.ncbi.nlm.nih.gov/40414526/). *Eur J Med Genet*. [Case Report / Case Series]
Taşdelen E (2025). [PMID: 41064052](https://pubmed.ncbi.nlm.nih.gov/41064052/). *Mol Syndromol*. [Case Report / Case Series]
Herlin LK (2024). [PMID: 39256944](https://pubmed.ncbi.nlm.nih.gov/39256944/). *Pediatr Dermatol*. [Case Report / Case Series]
Jith G (2024). [PMID: 38726487](https://pubmed.ncbi.nlm.nih.gov/38726487/). *J Hand Surg Asian Pac Vol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613576

Orphanet

European rare disease database

Orphanet:247827

GARD

Genetic and Rare Diseases Info Center

GARD:17199

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

ectodermal dysplasia-cutaneous syndactyly 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