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blindness - scoliosis - arachnodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blindness - scoliosis - arachnodactyly syndrome

MONDO:0012907

Also known as:scoliosis, arachnodactyly, and blindness

Overview

This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.

ResearchLimited published research (2 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 very common findings: Visual loss, Blindness, Arachnodactyly, and Sideways curvature of the spine (scoliosis); and common findings: Strabismus, Cataract, Retinal detachment, and Esotropia and others.

Organ System	Phenotype Count	Example Features
Eyes	6	Blindness, Strabismus, Cataract

Prognosis

Phenotype severity distribution: 4 very common features, 7 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 blindness - scoliosis - arachnodactyly syndrome.

2 publications have been identified in PubMed for blindness - scoliosis - arachnodactyly syndrome. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Reyna-Fabián ME (2024). [PMID: 38909058](https://pubmed.ncbi.nlm.nih.gov/38909058/). *Sci Rep*. [Basic Science / Preclinical]
Jiang Y (2024). [PMID: 39834548](https://pubmed.ncbi.nlm.nih.gov/39834548/). *Front Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612445

Orphanet

European rare disease database

Orphanet:171844

GARD

Genetic and Rare Diseases Info Center

GARD:17070

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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blindness - scoliosis - arachnodactyly syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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