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spondyloepiphyseal dysplasia, Reardon type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepiphyseal dysplasia, Reardon type

MONDO:0010902

Also known as:spondyloepiphyseal dysplasia with atlantoaxial instability

Overview

Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.

GeneticsAutosomal dominant

ResearchLimited published research (7 articles)

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: Os odontoideum, Atlantoaxial instability, Delayed skeletal maturation, and Short stature and 16 more.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Delayed skeletal maturation, Joint hypermobility, Hypoplasia of the capital femoral epiphysis

Prognosis

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 spondyloepiphyseal dysplasia, Reardon type.

7 publications have been identified in PubMed for spondyloepiphyseal dysplasia, Reardon type. Research spans Case Report / Case Series (57%) and Review / Meta-Analysis (43%).

Recent Publications

Tsirikos AI (2025). [PMID: 40900855](https://pubmed.ncbi.nlm.nih.gov/40900855/). *World J Methodol*. [Review / Meta-Analysis]
Bilgeç N (2025). [PMID: 39807608](https://pubmed.ncbi.nlm.nih.gov/39807608/). *Clin Dysmorphol*. [Case Report / Case Series]
Otsuka K (2025). [PMID: 40112088](https://pubmed.ncbi.nlm.nih.gov/40112088/). *JBJS Case Connect*. [Case Report / Case Series]
Menapace B (2025). [PMID: 40160158](https://pubmed.ncbi.nlm.nih.gov/40160158/). *J Pediatr Orthop*. [Case Report / Case Series]
O'Connor FG (2024). [PMID: 39283673](https://pubmed.ncbi.nlm.nih.gov/39283673/). *FP Essent*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600561

Orphanet

European rare disease database

Orphanet:163662

GARD

Genetic and Rare Diseases Info Center

GARD:16994

Questions for Your Care Team

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spondyloepiphyseal dysplasia, Reardon type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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