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Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. [1]
Complex regional pain syndrome (CRPS type 1 and type 2), sometimes referred to by the hyponyms reflex sympathetic dystrophy (RSD) or reflex neurovascular dystrophy (RND), is a rare and severe form of neuroinflammatory and dysautonomic disorder causing chronic pain, neurovascular, and neuropathic symptoms.
Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.
Heart failure may also be classified as acute or chronic. Chronic heart failure is a long-term condition, usually kept stable by the treatment of symptoms. Acute decompensated heart failure is a worsening of chronic heart failure symptoms, which can result in acute respiratory distress. [66]
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
It shares symptoms with toxic shock and Kawasaki disease, including fever, rashes, swollen glands, conjunctivitis and, in severe cases, heart inflammation, and can cause multiple organ failure.
Symptoms include one or more of the following: pain in the pubic area, hips, lower back, and thighs. This can take months (or even years) to go away. X-rays taken during the early stages of osteitis pubis can be misleading - pain may be felt, but the damage doesn't appear on the films unless stork views (i.e. standing on one leg) are obtained.
Diagnosis of acute failure is often based on a combination of factors such as decreased urine production or increased serum creatinine. [3] Diagnosis of chronic failure is based on a glomerular filtration rate (GFR) of less than 15 or the need for renal replacement therapy. [1] It is also equivalent to stage 5 chronic kidney disease. [1]