Geroderma Osteodysplasticum (GORAB)

Geroderma osteodysplaticum is an autosomal recessive disorder caused by pathogenic variants in the gene GORAB. The age of onset is infancy. This disorder is characterized by changes in the skin suggesting precocious aging and osseous changes such as osteoporosis. Individuals with this disorder typically have severe short stature, vertebral abnormalities, and spontaneous fractures. Individuals with developmental delay and mild intellectual disability have been reported. Life expectancy is typically normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):