RIDDLE syndrome

RIDDLE syndrome is a rare genetic disorder that affects many parts of the body. It is characterized by increased sensitivity to radiation, which means that people with this condition can be more prone to damage from radiation exposure. In addition, there are changes in the immune system which can affect how the body fights infections. People with RIDDLE syndrome may also experience mild difficulties with motor control and learning, have distinct facial features (dysmorphism), and are often of shorter stature. This disorder has a known genetic basis, linked to changes in the RNF168 gene. The condition is inherited in an autosomal recessive pattern, which means that a child would need to receive the altered gene from both parents to develop the syndrome.

Common symptoms of RIDDLE syndrome include increased sensitivity to radiation, a weakened immune system, mild motor control issues, and learning difficulties. Additionally, affected individuals may show facial dysmorphism and have a shorter stature.

RIDDLE syndrome is caused by changes in the RNF168 gene, a condition that is inherited in an autosomal recessive manner. This means that both parents must carry an altered copy of the gene for their child to be affected. The mutation in the RNF168 gene affects the pathways that protect the body from radiation damage and is linked to immune system problems.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.