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ectodermal dysplasia-syndactyly syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectodermal dysplasia-syndactyly syndrome 1

MONDO:0024565

Also known as:NECTIN4 ectodermal dysplasia-syndactyly syndromeectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4EDSS1

Overview

Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.

GeneticsAutosomal recessive · NECTIN4 (chr 1)

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, 2-3 toe cutaneous syndactyly, and Pili torti; and common findings: 2-4 finger cutaneous syndactyly and 4-5 toe syndactyly. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	2-4 finger cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndactyly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NECTIN4 encodes nectin cell adhesion molecule 4 (510 aa). Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Highest expression in Skin Sun Exposed Lower leg (205.2 TPM) and Skin Not Sun Exposed Suprapubic (203.6 TPM).

Ectodermal dysplasia-syndactyly syndrome 1 is associated with mutations in the NECTIN4 gene on chromosome 1.

NECTIN4 is classified as a druggable target (Druggable Genome category) with score 34.8.

Diagnosis

Genetic testing for NECTIN4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 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-syndactyly syndrome 1.

3 publications have been identified in PubMed for ectodermal dysplasia-syndactyly syndrome 1. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Abu Assab D (2025). [PMID: 40586252](https://pubmed.ncbi.nlm.nih.gov/40586252/). *Isr Med Assoc J*. [Case Report / Case Series]
Wang Y (2025). [PMID: 39577073](https://pubmed.ncbi.nlm.nih.gov/39577073/). *Breast*. [Review / Meta-Analysis]
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, 3:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613573

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-syndactyly syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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