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odontoid hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

odontoid hypoplasia

MONDO:0013333

Overview

An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.

GeneticsAutosomal dominant

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Atlantoaxial instability, Hypoplasia of the odontoid process, Cervical instability, and Dystopic os odontoideum.

Explore clinical features

Diagnosis

Biomarker and diagnostic research for odontoid hypoplasia has been reported in the published literature.

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 odontoid hypoplasia.

7 publications have been identified in PubMed for odontoid hypoplasia. Kisho has analyzed 5 by research type. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Rakshit P (2025). [PMID: 41141144](https://pubmed.ncbi.nlm.nih.gov/41141144/). *Cureus*. [Case Report / Case Series]
Bertin H (2025). [PMID: 39840740](https://pubmed.ncbi.nlm.nih.gov/39840740/). *Orthod Fr*. [Diagnostic / Biomarker]
Teixeira de Castro Gonçalves Ortega AC (2025). [PMID: 40881100](https://pubmed.ncbi.nlm.nih.gov/40881100/). *World J Clin Pediatr*. [Review / Meta-Analysis]
Iwasaki K (2024). [PMID: 39019432](https://pubmed.ncbi.nlm.nih.gov/39019432/). *World Neurosurg*. [Case Report / Case Series]
Silva KMS (2024). [PMID: 39222839](https://pubmed.ncbi.nlm.nih.gov/39222839/). *World Neurosurg*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613628

Questions for Your Care Team

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odontoid hypoplasia

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team