Coffin-Siris syndrome 8

Coffin-Siris syndrome 8 is a genetic condition caused by a mutation in the SMARCC2 gene. It belongs to a group of disorders known as Coffin-Siris syndromes, in which changes in specific genes affect body development and function. This condition is sometimes referred to as SMARCC2-related BAFopathy or CSS8. The mutation in the SMARCC2 gene disrupts its normal role during development, which is why this type of Coffin-Siris syndrome is distinct from others in its group. Researchers continue to study its clinical presentation and genetic basis to better understand the condition.

Information about symptoms is currently limited for this condition.

Coffin-Siris syndrome 8 is caused by a mutation in the SMARCC2 gene. This gene plays an important role in the regulation of other genes during development. When it is altered, it can disrupt normal growth and lead to the features associated with the condition.

Information about treatment options and management for this condition is currently limited.

Information about the prognosis and quality of life is currently limited for this condition.

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