WDPCP-related ciliopathy

WDPCP-related ciliopathy is a rare condition caused by changes (variants) in the WDPCP gene. Variants in this gene can lead to problems with cilia, which are small hair-like structures found on cells that help control various functions in the body. Some cases of WDPCP-related ciliopathy have been diagnosed as Bardet-Biedl syndrome 15. Additionally, people with this condition may present with features such as congenital heart defects, hamartomas of the tongue (non-cancerous growths), and polysyndactyly (the presence of extra fingers or toes).

Common signs seen in people with WDPCP-related ciliopathy may include congenital heart defects, growths on the tongue (hamartomas), and the presence of extra digits (polysyndactyly). Other aspects of the condition can overlap with features seen in Bardet-Biedl syndrome 15. Detailed information about the complete range of symptoms is currently limited for this condition.

WDPCP-related ciliopathy is caused by variants in the WDPCP gene. These genetic changes disrupt the normal function of cilia, which play important roles in cell signaling and development. As a result, alterations in cilia function can lead to various clinical features, such as those seen in this condition.

Information about treatment options for WDPCP-related ciliopathy is currently limited for this condition.

Information about the long-term outlook and quality of life for people with WDPCP-related ciliopathy is currently limited for this condition.

Information about current research and future directions for WDPCP-related ciliopathy is currently limited for this condition.