Living with RHYNS syndrome
A rare genetic syndrome with retina damage, hormone problems, kidney disease, and bone differences.
Understanding RHYNS syndrome
The name stands for retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. People may also have hearing loss, a drooping eyelid, and liver changes. It can begin during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Retina damage (rod-cone dystrophy)
- Low pituitary hormones (hypopituitarism)
- Kidney disease (nephronophthisis)
- Bone growth differences (skeletal dysplasia)
- Hearing impairment
- Drooping upper eyelid (ptosis)
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 TMEM67 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
It is caused by changes in the TMEM67 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: retinitis pigmentosa syndrome; retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome; retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia; retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome; rhyns (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) 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 RHYNS syndrome.
Explore research for RHYNS syndrome
Explore actively recruiting RHYNS syndrome studies with HealthSpark.
Find actively recruiting studies for RHYNS syndrome with HealthSpark. Share your city to explore research near you.
- 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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