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joint laxity, short stature, and myopia (JLSM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

joint laxity, short stature, and myopia

MONDO:0060556

Also known as:JLSM

Overview

GeneticsAutosomal recessive · GZF1 (chr 20)

OnsetCONGENITAL

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 always present findings: Short stature, Joint hypermobility, and High myopia; and common findings: Hearing loss (hearing impairment), Retinal detachment, Talipes equinovarus, and Multiple joint dislocation and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Kyphoscoliosis, Joint hypermobility, Multiple joint dislocation

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GZF1 encodes GDNF inducible zinc finger protein 1 (711 aa). Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression Highest expression in Testis (26.3 TPM) and Brain Cerebellar Hemisphere (20.2 TPM).

Joint laxity, short stature, and myopia is associated with mutations in the GZF1 gene on chromosome 20.

GZF1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GZF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present 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 joint laxity, short stature, and myopia.

4 publications have been identified in PubMed for joint laxity, short stature, and myopia. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Yokoyama-Rebollar E (2026). [PMID: 42170786](https://pubmed.ncbi.nlm.nih.gov/42170786/). *Am J Med Genet A*. [Case Report / Case Series]
Reyna-Fabián ME (2024). [PMID: 38909058](https://pubmed.ncbi.nlm.nih.gov/38909058/). *Scientific reports*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617662

Orphanet

European rare disease database

Orphanet:527450

GARD

Genetic and Rare Diseases Info Center

GARD:17963

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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joint laxity, short stature, and myopia

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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