Living with Joint laxity, short stature, and myopia
A rare genetic condition with very loose joints, joint dislocations, short height, and severe nearsightedness.
Understanding Joint laxity, short stature, and myopia
People have joints that stretch too far and large joints that dislocate more than once. Other common features include retinal detachment, gaps in the iris or retina (coloboma), curved spine, a pigeon chest, club feet, and hearing loss that gets worse over time. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very flexible joints (hypermobility)
- Repeated joint dislocations
- Severe nearsightedness (high myopia)
- Short stature
- Retinal detachment
- Hearing loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in GZF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GZF1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: severe myopia-generalized joint laxity-short stature syndrome; severe myopia, generalized joint laxity, short stature syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Joint laxity, short stature, and myopia.
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