Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992).

Knobloch syndrome-2 (KNO2) is characterized by severe vitreoretinal degeneration associated with occipital skull defects, ranging from mild encephalocele to abnormally pigmented hair. Developmental delay may be mild or severe (Antonarakis et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Knobloch syndrome, see KNO1 (267750).