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spondylo-ocular syndrome (SOS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylo-ocular syndrome

MONDO:0011604

Also known as:SOSspondyloocular syndrome

Overview

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

GeneticsAutosomal recessive · XYLT2 (chr 17)

ResearchLimited published research (5 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 always present findings: Dysplastic aortic valve, Cataract, Vertebral compression fracture, and Pes planus and others; and common findings: Femur fracture, Retinal detachment, Low posterior hairline, and Unilateral cryptorchidism and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	6	Retinal detachment, Cataract, Nystagmus

Genetic Landscape

XYLT2 function has not been fully characterized.

Spondylo-ocular syndrome is associated with mutations in the XYLT2 gene on chromosome 17.

Diagnosis

Genetic testing for XYLT2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 22 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 spondylo-ocular syndrome.

5 publications have been identified in PubMed for spondylo-ocular syndrome. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).

Recent Publications

Amini MJ (2026). [PMID: 42116084](https://pubmed.ncbi.nlm.nih.gov/42116084/). *J Med Case Rep*. [Case Report / Case Series]
Sillence D (2025). [PMID: 40425277](https://pubmed.ncbi.nlm.nih.gov/40425277/). *Journal of medical genetics*. [Epidemiology / Natural History]
Misgar RA (2024). [PMID: 38829420](https://pubmed.ncbi.nlm.nih.gov/38829420/). *Calcified tissue international*. [Case Report / Case Series]
Chen M (2024). [PMID: 39528281](https://pubmed.ncbi.nlm.nih.gov/39528281/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Case Report / Case Series]
Sillence DO (2024). [PMID: 38942908](https://pubmed.ncbi.nlm.nih.gov/38942908/). *Calcified tissue international*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605822

Orphanet

European rare disease database

Orphanet:85194

GARD

Genetic and Rare Diseases Info Center

GARD:16740

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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spondylo-ocular syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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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