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wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

MONDO:0011501

Also known as:Suarez-Stickler syndromecortical defects wormian bones and dentinogenesis imperfectacortical defects, WORMIAN bones, and dentinogenesis imperfecta

Overview

Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.

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: Dentinogenesis imperfecta and Concave nasal ridge; and common findings: Dolichocephaly, Hypertelorism, Periorbital fullness, and Wormian bones and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Limitation of joint mobility, Wormian bones, Pathologic fracture

Diagnosis

Biomarker and diagnostic research for wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 8 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 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia.

114 publications have been identified in PubMed for wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (11%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	79	69%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604922

Orphanet

European rare disease database

Orphanet:166277

GARD

Genetic and Rare Diseases Info Center

GARD:10290

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Kisho

wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications