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Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone disease, [1] is a very rare skeletal condition of unknown cause.It is characterized by the uncontrolled proliferation of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis.
Osteopetrosis, literally ' stone bone ', also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
It has been boosting its rare disease portfolio by helping develop a string of drugs licensed from other smaller developers.Sohonos will have a boxed warning for embryo-fetal toxicity and ...
Fibrous dysplasia is a very rare [2] nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture , deformity, functional impairment, pain, and the impingement of nerves. [ 3 ]
A congenital, noninherited, benign anomaly of bone development in a single bone, it consists of the replacement of normal marrow and cancellous bone by immature bone with fibrous stroma. Monostotic fibrous dysplasia occurs with equal frequency in both sexes and normally develops early in life, with lesions frequently identified late in the ...
However, he questioned if it was a rare genetic condition called Gaucher disease, which involves a buildup of fatty cells in the liver, spleen, and occasionally the bone marrow. (This happens ...
Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]