Gerodermia osteodysplastica

Gerodermia osteodysplastica is a rare inherited connective tissue disorder, passed on in an autosomal recessive pattern and counted within the spectrum of cutis laxa syndromes. It affects the skin, the connective tissues and the skeleton. People with the condition have wrinkled, loose skin, most noticeably over the face, abdomen and the backs of the hands and feet, together with weak bones that lead to osteopenia, osteoporosis and fractures. Other features include an underdeveloped upper jaw and cheekbones, a protruding lower jaw, bowed long bones, flattened vertebrae, curvature of the spine, congenital hip dislocation, delayed development and an overall look of dwarfism with premature ageing. Dental changes such as malocclusion and overgrown tooth roots have also been observed. The condition has also been called Walt Disney dwarfism, a name tied to a 1950 journal report of five affected members of a Swiss family. It was once thought to be X-linked but is now known to be strictly autosomal recessive, and it has been linked to mutations in the GORAB gene product. It resembles wrinkly skin syndrome, but a bone feature called the metaphyseal peg near the knee helps tell them apart. Management addresses symptoms and prevents complications, through bone density monitoring, physical therapy and orthopedic care. This entry records what is known and is not medical advice.