Type of disease: Rare conditions
Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene.
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.