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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

MONDO:0007520

Also known as:EEC syndrome 1EEC1ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1

Overview

An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.

GeneticsAutosomal dominant

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: Sparse hair. 62 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Toe syndactyly, Split hand, Hand polydactyly
Skin

Prognosis

Phenotype severity distribution: 1 always present feature.

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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1.

3 publications have been identified in PubMed for ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Gaudioso F (2025). [PMID: 41562894](https://pubmed.ncbi.nlm.nih.gov/41562894/). *Med Sci (Basel)*. [Review / Meta-Analysis]
Illi C (2025). [PMID: 40370525](https://pubmed.ncbi.nlm.nih.gov/40370525/). *Case Rep Perinat Med*. [Case Report / Case Series]
Butcher C (2024). [PMID: 39126172](https://pubmed.ncbi.nlm.nih.gov/39126172/). *Am J Med Genet A*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:129900

GARD

Genetic and Rare Diseases Info Center

GARD:15063

Questions for Your Care Team

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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

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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