[MIM*103580, MIM*300800, MIM*203330] 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.pseudohypoparathyroidism. SYN: Albright syndrome (2).
