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  • A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism.
  • Parathyroid hormone (PTH) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the GNAS gene encoding Gs-alpha, resulting in expression of PTH from only the paternal allele. Clinical manifestations include Albright hereditary osteodystrophy, early-onset obesity, and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of Gs-alpha deficiency.
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