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Albright's hereditary osteodystrophy
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Overview
Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The features of Albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). This autosomal dominantly inherited condition is caused by mutations in the GNAS gene.[1] Treatment consists of calcium and vitamin D supplements.[2]
References
- Kottler ML, Linglart A, Carel JC. Albright hereditary osteodystrophy. Orphanet encyclopedia. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=665. Accessed October 17, 2012.
- Topiwala S. Pseudohypoparathyroidism. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed October 17, 2012.
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General Information
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Albright's hereditary osteodystrophy. Click on the link to go to OMIM and review these resources.