Waardenburg syndrome type 4C

Waardenburg syndrome type 4C is a rare genetic condition that is a subtype of Waardenburg syndrome type 4, also known as Waardenburg-Shah syndrome. This condition is linked with changes in pigmentation and has been associated with features of Hirschsprung disease. It is one of several types within the Waardenburg spectrum and is caused by mutations in the SOX10 gene. Although research specifically focused on type 4C is limited, studies of related conditions suggest that mutations in this gene affect the development of pigment cells and nerve cells. This can lead to some of the characteristic features seen in people with the condition. Information provided here is based on trusted sources and is meant to give a general understanding of what Waardenburg syndrome type 4C is.

Information about symptoms is currently limited for this condition.

Waardenburg syndrome type 4C is caused by mutations in the SOX10 gene. The SOX10 gene plays a critical role in the development of pigment-producing cells and nerve cells that help regulate bowel movements. Alterations in this gene can disrupt normal cell development and lead to the varied features 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.