Living with HELIX syndrome
A rare genetic condition affecting sweating, tears, saliva, skin, and how the kidneys handle salts.
Understanding HELIX syndrome
It can cause very little sweating, heat intolerance, dry eyes and mouth, dry scaly skin (ichthyosis), and salt loss through the kidneys. Some people develop kidney stones and severe wear on tooth enamel. Blood tests may show changes in magnesium, potassium, and calcium. Symptoms can start anywhere from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little or no sweating (hypohidrosis or anhidrosis)
- No tears in the eyes (alacrima)
- Dry mouth (xerostomia)
- Kidney stones (nephrolithiasis)
- Heat intolerance
- Extreme thirst and passing more urine
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 kidney specialists.
- 3Consider genetic testing
Changes in CLDN10 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); Kidney specialists (nephrologists)
- 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 National Kidney Foundation and other patient organizations
- 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
HELIX syndrome is caused by changes in the CLDN10 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: helix; helix (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome; hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with HELIX syndrome.
Explore research for HELIX syndrome
Explore actively recruiting HELIX syndrome studies with HealthSpark.
Find actively recruiting studies for HELIX syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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