A rare genetic disorder involving bone and mineral metabolism. Probably inherited as a sex-linked disorder and is characterized by a resistance to parathyroid hormone and an elevated blood level of PTH. Victims are short, have a round face, and have brachydactylia as a result of early epiphyseal closure. In some cases, there is ectopic soft tissue calcification.
Pseudohypoparathyroidism is a rare hereditary disorder that affects bone growth and the metabolism of minerals. It is one of a group of diseases resulting from hypocalcemia due to the body’s inadequate response to the parathyroid hormone. Pseudohypoparathyroidism is sometimes also known as Martin-Albright syndrome (National Organization for Rare Disorders, 1999). It may also be found when Turner syndrome exists.
A syndrome of mental retardation, restricted growth, and bony abnormalities due to a genetic defect that causes lack of response to the hormone secreted by the parathyroid glands. Treatment with calcium and vitamin D can reverse most of the features.
A group of hereditary diseases resembling hypoparathyroidism but caused by an inadequate response to parathyroid hormone rather than a deficiency of the hormone. Some of these patients are obese with short, stocky build and a moonface.