Geroderma Osteodysplastica

Geroderma osteodysplastica is a rare disease characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Bone problems may include severe osteoporosis leading to frequent fractures, underdeveloped cheekbones and jaw (malar and mandibular hypoplasia) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene. Inheritance is autosomal recessive.