Revesz syndrome
Revesz Syndrome
Revesz Syndrome (pronounced: rev-ez sin-drome) is a rare genetic disorder characterized by a variety of symptoms, including retinopathy, bone marrow failure, and developmental delay. The syndrome was first described by Dr. T. Revesz in 1992.
Etymology
The syndrome is named after Dr. T. Revesz, who first described the condition in 1992. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
Revesz Syndrome is characterized by several key symptoms:
- Retinopathy: This is a disease of the retina, which is the part of the eye that senses light. In Revesz Syndrome, retinopathy often leads to vision loss.
- Bone Marrow Failure: This is a condition in which the bone marrow does not produce enough blood cells. This can lead to anemia, increased risk of infection, and other complications.
- Developmental Delay: Children with Revesz Syndrome often experience delays in reaching developmental milestones, such as walking or talking.
Causes
Revesz Syndrome is caused by mutations in the TINF2 gene. This gene provides instructions for making a protein that is involved in maintaining the structure of telomeres, which are the protective caps on the ends of chromosomes.
Diagnosis
Diagnosis of Revesz Syndrome is based on clinical symptoms and confirmed by genetic testing for mutations in the TINF2 gene.
Treatment
There is currently no cure for Revesz Syndrome. Treatment is focused on managing symptoms and may include blood transfusions for bone marrow failure, vision aids for retinopathy, and physical and occupational therapy for developmental delays.
Related Terms
- Dyskeratosis Congenita: A related genetic disorder that also involves bone marrow failure and abnormalities of the skin and nails.
- Hoyeraal-Hreidarsson Syndrome: A severe variant of Dyskeratosis Congenita that also includes developmental delay and immunodeficiency.
See Also
External links
- Medical encyclopedia article on Revesz syndrome
- Wikipedia's article - Revesz syndrome
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