Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson Syndrome [1], which is related to Dyskeratosis congenita.
Reye's syndrome is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver. It is associated with aspirin consumption by children with viral diseases such as chickenpox. The disease causes fatty liver with minimal inflammation, and severe encephalopathy (with swelling of the brain). The liver may become slightly enlarged and firm, and there is a change in the appearance of the kidneys. Jaundice is not usually present. Early diagnosis is vital, otherwise death or severe brain damage may follow.
A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.
Reynolds syndrome is a rare autoimmune disease, consisting of the combination of primary biliary cirrhosis and progressive systemic sclerosis. In some patients this syndrome has also been associated with Sjögren's syndrome and hemolytic anemia. Typical clinical features include jaundice, elevated blood levels of alkaline phosphatase, calcinosis cutis, telangiectasias, and pruritus. Raynaud's phenomenon may be an early clinical feature. The syndrome, a special case of scleroderma, is named after the American physician, Telfer B. Reynolds, MD (1921-2004), who first described it. He is also known for creating one of the world's first hepatology programs at the University of Southern California.
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Infection with a parasitic worm from the order rhabditida. The symptoms are determined by the species involved.
A rhabdoid tumor is a rare and highly malignant tumor of childhood, first described in 1978. These tumors were initially considered an aggressive variant of Wilms' tumor of the kidney, however, with newer diagnostic techniques, these tumors are believed to represent a distinct entity. Since that time, there have been fewer than 50 cases reported, although it is likely that some cases previously identified as medulloblastoma or as primitive neuroectodermal tumors (PNET) are in fact rhabdoid tumors. These tumors occur in young children, mean age at diagnosis of 3.5 years, with a range of 2 to 13 years. There are no reported cases in adults. Rhabdoid tumors occur equally in males and females. The location can be supratentorial, intraventicular, and infratentorial.
A very rare syndrome characterized mainly by genital anomalies, heart disease and lung problems
Rhabdomyosarcoma (RMS), is a type of cancer, specifically a sarcoma (cancer of connective tissues), in which the cancer cells are thought to arise from skeletal muscle progenitors. It can also be found attached to muscle tissue, wrapped around intestines, or in any anatomic location. It mostly occurs in areas naturally lacking in skeletal muscle, such as the head, neck, and genitourinary tract.
A type of tumor found around the eye area (orbit). The tumor is usually malignant.
A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor.
Rheumatic fever (also known as acute rheumatic fever, ARF), is an inflammatory disease that can involve the heart, joints, skin, and brain. The disease typically develops two to four weeks after a throat infection. Signs and symptoms include fever, multiple painful joints, involuntary muscle movements, and a characteristic but uncommon non itchy rash known as erythema marginatum. The heart is involved in about half of cases. Permanent damage to the heart valves, known as rheumatic heart disease (RHD), usually only occurs after multiple attacks but may occasionally occur after a single case of ARF. The damaged valves may result in heart failure. The abnormal valves also increase the risk of the person developing atrial fibrillation and infection of the valves.
Acute rheumatic fever may occur following an infection of the throat by the bacteria Streptococcus pyogenes. If it is untreated ARF occurs in up to three percent of people. The underlying mechanism is believed to involve the production of antibodies against a person's own tissues. Some people due to their genetics are more likely to get the disease when exposed to the bacteria than others. Other risk factors include malnutrition and poverty. Diagnosis of ARF is often based on the presence of signs and symptoms in combination with evidence of a recent streptococcal infection.
Treating people who have strep throat with antibiotics, such as penicillin, decreases their risk of getting ARF. This often involves testing people with sore throats for the infection, which may not be available in the developing world. Other preventative measures include improved sanitation. In those with ARF and RHD prolonged periods of antibiotics are sometimes recommended. Gradual return to normal activities may occur following an attack. Once RHD develops, treatment is more difficult. Occasionally valve replacement surgery or repair is required. Otherwise complications are treated as per normal.
Acute rheumatic fever occurs in about 325,000 children each year and about 18 million people currently have rheumatic heart disease. Those who get ARF are most often between the ages of 5 and 14, with 20% of first-time attacks occurring in adults. The disease is most common in the developing world and among indigenous peoples in the developed world. In 2013 it resulted in 275,000 deaths down from 374,000 deaths in 1990. Most deaths occur in the developing world where as many as 12.5% of people affected may die each year. Descriptions of the condition are believed to date back to at least the 5th century BCE in the writings of Hippocrates. The disease is so named because its symptoms are similar to those of some rheumatic disorders
A variant form of rheumatoid disease involving the development of nodules under the skin. Normally there is little or no joint pain involved. The nodules tend to form around joints such as the elbows.
Vasculitis is a condition in which blood vessels become inflamed. When blood vessels become inflamed, they may become weakened, become thickened and increase in size, or become narrowed, sometimes to the point of stopping blood flow. The blood vessels most often involved are arteries which bring blood to the skin, nerves and internal organs. Small veins can also be involved. If inflammation is severe, tissues that are nourished by the blood vessel can be damaged when blood flow decreases. Because large blood vessels nourish larger quantities of tissue, the larger the involved vessel, the more likely serious tissue damage may occur. For this reason, the size of the blood vessel involved influences the amount of damage from rheumatoid vasculitis.
A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42.
A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
A very rare syndrome characterized mainly by short upper arm and thigh bones.
A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities.
A rare condition which tends to cause muscle pain and stiffness in the neck, shoulder and hip area
A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
A rare syndrome characterized by eye, kidney and skeletal abnormalities as well as hypopituitarism.
A rare disorder primarily involving abnormal development of bone tissue inside parts of some long bones - particularly in the lower legs.
A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.
A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation .
A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies.
A very rare syndrome characterized by a cleft palate, genital anomalies, retarded growth, heart defect and a hand abnormality.
A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.
Richieri costa colletto otto syndrome (medical condition): A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies
A very rare syndrome characterized mainly by premature fusion of skull bones, facial anomalies and various other abnormalities