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osteosclerosis-developmental delay-craniosynostosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteosclerosis-developmental delay-craniosynostosis syndrome

MONDO:0015800

Overview

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.

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: Brachycephaly, Macrocephaly, Hypertelorism, and Broad forehead and others; and common findings: Craniosynostosis. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Macrocephaly, Craniosynostosis, Facial palsy

Diagnosis

Biomarker and diagnostic research for osteosclerosis-developmental delay-craniosynostosis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 1 common feature.

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 osteosclerosis-developmental delay-craniosynostosis syndrome.

204 publications have been identified in PubMed for osteosclerosis-developmental delay-craniosynostosis syndrome. Research spans Review / Meta-Analysis (58%), Basic Science / Preclinical (13%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Research summaries	119	58%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:178377

GARD

Genetic and Rare Diseases Info Center

GARD:20147

Questions for Your Care Team

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Kisho

osteosclerosis-developmental delay-craniosynostosis 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

osteosclerosis-developmental delay-craniosynostosis 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