Waardenburg syndrome type 2C

Waardenburg syndrome type 2C is a rare genetic condition that affects pigment in the hair, skin, and eyes, and it is often associated with congenital hearing loss. Unlike some other types of Waardenburg syndrome, people with type 2C do not have a lateral displacement of the inner canthus of the eyes. This distinction helps healthcare providers identify the condition and differentiate it from other related syndromes. The condition has its material basis in variations in the chromosome region 8p23. These changes may affect the development of pigment cells and auditory structures during early development, which leads to the characteristic features seen in this syndrome.

People with Waardenburg syndrome type 2C may have noticeable differences in pigmentation, including differences in hair color, skin tone, or eye color. They also commonly experience congenital sensorineural hearing loss. These symptoms can vary in severity from one person to another.

This condition is caused by genetic variations in the chromosome region 8p23 and is linked to the WS2C gene. These genetic differences affect the development of pigment-producing cells and can also influence the development of the inner ear, leading to hearing loss. The variation in this specific region is a key factor in causing Waardenburg syndrome type 2C.

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.