Other Names for this Disease
- Geroderma osteodysplasticum
- Gerodermia osteodysplastica
- Walt Disney dwarfism
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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.Geroderma osteodysplastica
Last updated: 7/15/2014
- GORAB. Genetics Home Reference (GHR). July 14, 2014; http://ghr.nlm.nih.gov/gene/GORAB. Accessed 7/15/2014.
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- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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