Gerodermia osteodysplastica

Gerodermia osteodysplastica (GO), is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes.Gerodermia osteodysplastica is characterized by symptoms and features which affect the connective tissues, skin and skeletal system.Originally believed to be inherited in an X-linked recessive fashion, gerodermia osteodysplastica is now known to display strictly autosomal recessive inheritance. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.Many features of gerodermia osteodysplastica (GO) and another autosomal recessive form of cutis laxa, wrinkly skin syndrome (WSS, Online Mendelian Inheritance in Man (OMIM) 278250), are similar to such an extent that both disorders were believed to be variable phenotypes of a single disorder.