geroderma osteodysplasticum

an autosomal recessive disorder caused by mutation in the SCYL1BP1 gene (locus: 1q24.2), which encodes a protein which has been identified as a golgin. It is characterized by geroderma associated with osseous changes, including osteoporosis, lines in the bones that resemble growth rings of a tree, and dwarfism. Called also Walt Disney dwarfism.