McKusick–Kaufman syndrome (MKS) is a rare genetic condition caused by mutations in the MKKS gene, which affects how cells develop and function.

[3] While MKS mainly causes extra fingers or toes (postaxial polydactyly), fluid buildup in the vagina (hydrometrocolpos), and sometimes heart defects, BBS has more serious symptoms such as vision loss and obesity, that usually appear later in life.

[4] It was first discovered in this group through a genetic method called positional cloning, which helped scientists identify the MKKS gene as the cause of this condition.

This gene plays an important role in forming cilia, which are tiny hair-like structures on cells that help with movement and signalling.

[1][5] Using a multigene panel that includes MKKS and genes associated with BBS improves diagnostic accuracy and reduces the likelihood of identifying variants of uncertain significance.