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global developmental delay-osteopenia-ectodermal defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

global developmental delay-osteopenia-ectodermal defect syndrome

MONDO:0019129

Overview

This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies.

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 very common findings: Atypical behavior, Aggressive behavior, Short attention span, and Mild bone density loss (osteopenia) and others; and common findings: Delayed speech and language development and EEG abnormality. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Atypical behavior, Aggressive behavior, Delayed speech and language development

Diagnosis

Biomarker and diagnostic research for global developmental delay-osteopenia-ectodermal defect syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 16 very common features, 2 common features.

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 global developmental delay-osteopenia-ectodermal defect syndrome.

201 publications have been identified in PubMed for global developmental delay-osteopenia-ectodermal defect syndrome. Kisho has analyzed 90 by research type. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (30%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	36

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:73223

GARD

Genetic and Rare Diseases Info Center

GARD:18919

Questions for Your Care Team

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Kisho

global developmental delay-osteopenia-ectodermal defect syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

global developmental delay-osteopenia-ectodermal defect syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications