CHD7-related CHARGE syndrome

CHD7-related CHARGE syndrome is a rare genetic condition caused by a change in the CHD7 gene. This condition is also known as CHARGE syndrome due to CHD7 deficiency. The syndrome is part of a group of conditions that share overlapping features, which may affect multiple parts of the body. The name CHARGE comes from a set of clinical features that have been observed in people with the syndrome, although not every person will have all of these features. People with CHD7-related CHARGE syndrome can show a variety of signs at birth and during childhood, and the pattern of symptoms may differ among individuals. This overview is based on current limited information that specifically links the syndrome to changes in the CHD7 gene. Further clinical details and variability in presentation are still being studied and understood.

Information about symptoms is currently limited for this condition.

CHD7-related CHARGE syndrome is caused by a variation in the CHD7 gene. This genetic change affects how the gene works, leading to the clinical features that are seen in this condition. The precise details of how the genetic variation causes each of the signs and symptoms are not yet fully understood. As the name suggests, the syndrome is directly linked to issues with the CHD7 gene, which plays a role in development.

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.