IVIC syndrome

IVIC syndrome is a very rare genetic condition that affects several parts of the body. It is characterized by differences in the upper limbs, such as abnormalities of the radial ray (the bones of the forearm and wrist) and fused carpal bones. In addition to these limb differences, people with IVIC syndrome may experience disturbances in the movement of the muscles around the eyes and have hearing loss that is present from birth and does not worsen over time. The condition is recognized as a malformation syndrome with a range of physical findings. The combination of limb anomalies, extraocular motor issues, and mixed hearing loss helps in distinguishing IVIC syndrome from other disorders. This summary is based on the genetic definition and known clinical features of the condition.

People with IVIC syndrome typically show upper limb abnormalities such as radial ray defects and carpal bone fusion. They may also have difficulties with eye movement and experience congenital mixed hearing loss, which means there is a combination of hearing loss types present from birth that does not progress with time.

IVIC syndrome is a genetic condition. It is associated with changes in the SALL4 gene, which is known to play a role in development. This genetic change leads to the malformations and symptoms seen in the condition.

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.