Living with Revesz syndrome
A rare genetic condition starting in early childhood that affects the skin, nails, blood, eyes, and brain.
Understanding Revesz syndrome
People have features of DC, such as skin color changes, poorly formed nails, white patches in the mouth, thin hair, and developmental delay. They also have a high risk of bone marrow failure (the marrow stops making enough blood cells) and cancer. It also causes fluid-related retina problems in both eyes and calcium deposits in the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone marrow failure and aplastic anemia
- Retinal detachment
- Calcium deposits in the brain
- Delayed development and growth
- Small head size (microcephaly)
- Poor nail formation and sparse hair
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 blood and bone marrow specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TINF2 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
- Blood and bone marrow specialists (hematologists); Eye disease specialists (ophthalmologists); 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 Team Telomere
- 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 TINF2 gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: dkca5; dyskeratosis congenita with bilateral exudative retinopathy; dyskeratosis congenita, autosomal dominant 5; exudative retinopathy with bone marrow failure; retinopathy-anemia-central nervous system anomalies syndrome; retinopathy, anemia, central nervous system anomalies syndrome
Patient organizations
- Team TelomereRevesz syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Revesz syndrome.
Explore research for Revesz syndrome
Explore actively recruiting Revesz syndrome studies with HealthSpark.
Find actively recruiting studies for Revesz 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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