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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.
The syndrome presents with hematuria (blood in the urine) and flank (a region of the lower back beneath the ribs and above the ilium) pain which can result from a number of causes. Nonglomerular causes of bleeding (e.g., urinary infection, tumor, or nephrolithiasis) must be excluded.
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]
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain.It is called multifocal because it can appear in different parts of the body, primarily bones, and osteomyelitis because it is very similar to that disease, although CRMO appears to be without any infection.
Adults. Osteomalacia [16] Dental abscesses [20] Limited range of movement (enthesopathy) [20] [21] Short stature [20] Fatigue [19] Fractures / pseudofracture [22] Bone pain [18] People often have bowed legs or knock knees in which they usually cannot touch both knees and ankles together at the same time. [citation needed] Craniostenosis [20 ...
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.
Mueller–Weiss syndrome, also known as Mueller–Weiss disease, is a rare [2] idiopathic degenerative disease of the adult navicular bone characterized by progressive collapse and fragmentation, leading to mid- and hindfoot pain and deformity. [3] [1] It is most commonly seen in females, ages 40–60. [4]
The median age at diagnosis is 28 years of age, [7] and life expectancy is mildly decreased. [8] Type II (one or two alleles L444P) is characterized by neurological problems in small children. The enzyme is hardly released into the lysosomes. Prognosis is poor: most die before the age of three.