X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

This condition is a rare, X-linked disorder that mainly affects the brain and the heart. It is characterized by intellectual disability and delayed psychomotor development, meaning that the movements and motor skills of people with this condition may develop slower than expected. In addition, there can be seizures, large joint contractures, and abnormal positioning of the thumbs. Cardiac abnormalities are also present, reflecting a complex condition that involves both neurological and cardiac issues. The genetic cause of this condition is linked to a mutation in the CLIC2 gene on chromosome Xq28. This mutation leads to a range of signs and symptoms that vary in severity, and the condition is recognized as a syndromic form of intellectual disability, meaning that it is associated with additional physical and developmental features. The available information helps provide a better understanding of this disorder, although it remains rare and many details are still being studied.

Common symptoms in people with this condition include intellectual disability, delayed psychomotor development, and seizures. Many individuals also show large joint contractures and abnormal positioning of the thumbs. Cardiac abnormalities, which may include cardiomegaly (an enlarged heart) or congestive heart failure, are a significant part of the condition. These symptoms together define a complex syndrome where multiple organ systems are affected.

The cause of this condition is a mutation in the CLIC2 gene, which is located on the X chromosome (Xq28). Since the condition is X-linked, it primarily affects males who carry a single copy of the mutated gene, while females may be carriers with varying effects. This genetic mutation disrupts normal development and function, leading to the intellectual, motor, and cardiac symptoms seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.