Living with Jalili syndrome
A genetic condition that combines tooth enamel problems with a retinal disease that affects vision, starting in childhood.
Understanding Jalili syndrome
Teeth have abnormal enamel and may be discolored. The retina has cone-rod dystrophy, which affects color vision and sharp vision. It is noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak or abnormal tooth enamel
- Discolored teeth
- Reduced vision
- Color vision problems
- Sensitivity to light
- Quick, rhythmic eye movements (nystagmus)
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 eye disease specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in CNNM4 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
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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 CNNM4 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: amelogenesis imperfecta co-occurrent with cone rod dystrophy; cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy and amelogenesis imperfecta
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 Jalili syndrome.
Explore research for Jalili syndrome
Explore actively recruiting Jalili syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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