Albright's Hereditary Osteodystrophy

Overview

Type of disease: Rare conditions

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.  Treatment consists of calcium and vitamin D supplements. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.