Geroderma osteodysplastica

Geroderma osteodysplastica has a congenital developmental disorder of connective tissue. The skin ages prematurely associated with generalized bone decalcification. Already in childhood, a high-grade osteoporosis with frequent fractures appears.

The cause is a mutation in the GORAB gene at location 1q24.2. However, the mutation is not observed in every patient. For example, a mutation in the chromosome 17 PYCR1 gene has recently been discovered in some patients. The inheritance is autosomal recessive.

Life expectancy is not limited.