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osteogenesis imperfecta, type 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta, type 23

MONDO:0957988

Overview

GeneticsAutosomal recessive · PHLDB1 (chr 11)

OnsetCONGENITAL

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: Severe platyspondyly, Shallow acetabular fossae, Mild bone density loss (osteopenia), and Bowing of the legs and others; and very common findings: Blue sclerae. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Broad femoral head, Mild bone density loss (osteopenia), Recurrent fractures

Genetic Landscape

PHLDB1 function has not been fully characterized.

Osteogenesis imperfecta, type 23 is associated with mutations in the PHLDB1 gene on chromosome 11.

Diagnosis

Genetic testing for PHLDB1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta, type 23 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 1 very common feature, 4 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 osteogenesis imperfecta, type 23.

19 publications have been identified in PubMed for osteogenesis imperfecta, type 23. Research spans Clinical Trial Publication (26%), Review / Meta-Analysis (16%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Clinical study results	5	26%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620639

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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Kisho

osteogenesis imperfecta, type 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

osteogenesis imperfecta, type 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications