Albright hereditary osteodystrophy
Definition: an inherited form of hyperparathyroidism associated with ectopic calcification, ossification, and skeletal defects, notably in the small fourth metacarpals; intelligence may be normal or subnormal. Inheritance is heterogeneous; the autosomal form [MIM*103580] is caused by mutation in the guanine nucleotide-binding protein gene (GNAS1) on 20q. There are also the recessive [MIM*203330] and X-linked [MIM*300800] forms.
Synonym(s): Albright syndrome2
See Also: pseudohypoparathyroidism
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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.