Familial hyperparathyroidism occurs in a handful of genetic syndromes including multiple endocrine neoplasia (MEN) syndromes, familial hypocalciuric hypercalcemia (FHH), and hyperparathyroidism-jaw tumor syndrome (HPT-JT). All syndromes are autosomal dominant with variable penetrance of degree of clinical hyperparathyroidism. An awareness of the genetic underpinnings and syndromic presentations of HPT is required for proper and timely diagnosis and management of patients and their families. MEN type 1 is characterized by a loss of function in the tumor suppressor gene menin, whereas MEN type 2 (type 2A and 2B now known as type 3) is characterized by a gain-of-function mutation in the RET proto-oncogene. MEN type 4 is a rare more recently identified syndrome resulting from a mutation in the cyclin-dependent kinase inhibitor 1B gene (CDKN1B). MEN type 5, also recently identified, results from a germline mutation of the tumor suppressor gene MYC-associated factor X (MAX). FHH is characterized by mutations that alter the calcium-sensing receptor in the kidney and parathyroid glands, resulting in mild hypercalcemia, elevated PTH levels, and hypocalciuria. HPT-JT is characterized by a hereditary predisposition to jaw tumors as well as benign and malignant tumors of the parathyroid glands. Neonatal severe hyperparathyroidism (NS-HPT) is a rare life-threatening condition resulting from mutations in the calcium-sensing receptor (CASR). Each of these disorders requires careful evaluation, diagnostic testing, genetic analysis, and in some cases surgical management.