<unk>  is an inherited autosomal recessive trait. In some instances, the parents of individuals with<unk>  are consanguineously related. Genetic analysis suggests that<unk>  may be due to the genetic mutation of gene CTSC cathepsin C, which is located on the long arm of chromosome 11. Furthermore, analysis demonstrates that in individuals with<unk> , a haplotype surrounded the gene location and appeared to be transmitted with it as unit. This suggests that the CTSC gene was inherited from a common ancestor. The CTSC cathepsin C gene regulates the production of the enzyme cathepsin C, which is expressed in various organs and tissues. The CTSC gene is thought to play a role in the differentiation of epithelial cells, resulting in the hyperkeratosis and erythema of the soles of feet and palms of hands, and connects the gingiva to the tooth surface.
Haim–Munk syndrome
Young–Madders syndrome
Hamman's syndrome
Young's syndrome
Potocki–Lupski syndrome
Ho–Kaufman–Mcalister syndrome
Young–Simpson syndrome
Binder's syndrome