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Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels that causes abnormal growth within the wall of an artery. [1] FMD has been found in nearly every arterial bed in the body, although the most commonly affected are the renal and carotid arteries. [1] [2] [3]
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).
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), [1] is a rare form of autosomal recessive congenital muscular dystrophy. [2]
At birth, people with Maroteaux–Lamy syndrome typically do not display any signs or symptoms. [4] Signs are revealed early in the affected child's life, with one of the first symptoms often being a significantly prolonged age of learning how to walk. Growth begins normally, but children usually stop growing by age 8.
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
With appropriate treatment and management, patients with Weaver syndrome appear to do well, both physically and intellectually, throughout their life and have a normal lifespan. [medical citation needed] Their adult height can reach 7–8 feet (213.36–243.84 cm). [13]
An important test to confirm a diagnosis of Conradi–Hünermann syndrome is evaluating the plasma for elevated levels of a substance known as sterols. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Sterol levels are measured by gas chromatography-mass spectrometry. [5]
Superior mesenteric artery compressing the duodenum, featuring the superior mesenteric artery syndrome. Superior mesenteric artery (SMA) syndrome is a gastro-vascular disorder in which the third and final portion of the duodenum is compressed between the abdominal aorta (AA) and the overlying superior mesenteric artery.