the skeletal abnormalities, collectively, of *pseudohypoparathyroidism. These include short stature, abnormally short fingers and toes (particularly involving the fourth and fifth metacarpals and metatarsals), and soft-tissue calcification. [F. Albright (1900–69), US physician]
(HNPCC, Lynch syndrome) an inherited disorder in which there is an increased incidence of colorectal *polyp formation, although to a lesser extent than in familial adenomatous *polyposis (FAP). HNPCC has also been associated with other types of tumour, particularly ovarian and endometrial tumours. This increased risk is due to inherited mutations that impair DNA mismatch repair.... hereditary nonpolyposis colorectal cancer
a group of rare inherited disorders characterized by recurrent attacks of fever and inflammation in the absence of infection. They include familial Mediterranean fever (see polyserositis), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), and the cryopyrin-associated periodic syndrome (CAPS). Causative gene mutations have been identified.... hereditary periodic fever syndromes
polyostotic *fibrous dysplasia of long bones coupled with *café au lait spots and precocious puberty, occurring in both males and females. [D. J. McCune (1902–76), US paediatrician; F. Albright (1900–69), US physician]... mccune–albright syndrome
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