Diseases

SARS

Severe acute respiratory syndrome (SARS) is a respiratory disease in humans which is caused by the SARS coronavirus (SARS-CoV).[1] There has been one near pandemic to date, between November 2002 and July 2003, with 8,096 known infected cases and 774 deaths (a case-fatality rate of 9.6%) worldwide being listed in the World Health Organization's (WHO) 21 April 2004 concluding report.[2] Within a matter of weeks in early 2003, SARS spread from the Guangdong province of China to rapidly infect individuals in some 37 countries around the world[3]

Satoyoshi syndrome

A very rare syndrome characterized by alopecia, diarrhea, skeletal abnormalities and painful leg cramps caused by physical exercise or emotional stress.

Scapuloperoneal myopathy- MYH7-related

A dominantly inherited disorder involving muscle wasting and weakness that occurs mainly in the shoulder and lower leg muscles. It results from a defect in the MYH7 gene on chromosome 14q12.

SCARF syndrome

A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.

Scheurermann’s disease

Scheuermann’s disease is a self-limiting skeletal disorder of childhood. It is also known as Sherman's Disease (since some people have difficulties spelling Scheuermann) and Scheuermann’s kyphosis, since it results in kyphosis. It is named for Holger Werfel Scheuermann.[1][2][3] It is more well characterized for the thoracic spine than for the lumbar spine.[4][5]

Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in disproportionate short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small deformed capital femoral epiphyses, and shallow dysplastic acetabular fossae. Adult height is 136-157 cm for men and 98.5-143 cm for women. All affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease (ESRD). All tested individuals have T-cell deficiency and associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with death early in life to a juvenile or milder later-onset form with survival into adulthood if renal disease is appropriately treated.

Schindler disease

Schindler disease is a very rare, lysosomal storage disorder, caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase). Resulting deficiency in NAGA activity leads to excessive lysosomal accumulation of glycosphingolipids throughout the body.

Exact prevalence of NAGA deficiency is unknown but fewer than 20 cases have been reported to date in patients of German, Dutch, Spanish, Japanese, French and Moroccan origin.

Schinzel Giedion syndrome

SGS is a complex genetic disorder that typically causes: •a major facial defect called midface retraction, •a disorder known as hydronephrosis caused by obstruction and distension in the kidney, •unusual skeletal features, •excessive growth of bodily hair (hypertrichosis), •seizures, •abnormal EEG, •severe mental retardation, and •failure to thrive. There can also be heart problems, genital abnormalities, and spells of interrupted breathing.

Schisis association

A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.

Schistosomiasis

Schistosomiasis, or bilharzia, is a parasitic disease caused by trematode flatworms of the genus Schistosoma. Larval forms of the parasites, which are released by freshwater snails, penetrate the skin of people in the water. It can cause serious, long-term illness. It can cause serious long-term illness.

There are two major forms of schistosomiasis – intestinal and urogenital – caused by five main species of blood fluke.

An estimated 700 million people worldwide may be at risk of infection as their agricultural, domestic and recreational activities expose them to infested water.

Source: WHO

Schizencephaly

Schizencephaly is a type of cephalic disorder. Schizencephaly is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly can be distinguished from porencephaly by the fact that in schizencephaly the cyst is lined by heterotopic grey matter while a porencephalic cyst is lined by white matter. Individuals with clefts in both hemispheres, or bilateral clefts, are often developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in one hemisphere) may be weak on one side of the body and may have average or near-average intelligence. Patients with schizencephaly may also have varying degrees of microcephaly, mental retardation, hemiparesis (weakness or paralysis affecting one side of the body), or quadriparesis (weakness or paralysis affecting all four extremities), and may have reduced muscle tone (hypotonia). Most patients have seizures and some may have hydrocephalus.

Schizophrenia

Schizophrenia, which affects 1 percent of the world's population, is a severe, chronic, and generally disabling brain disease. While the term schizophrenia literally means "split mind", it should not be confused with a "split", or multiple, personality. It is more accurately described as a psychosis -- a type of illness that causes severe mental disturbances that disrupt normal thoughts, speech, and behavior. Schizophrenia is believed to be due to a combination of genetic and environmental factors.

Symptoms

The symptoms of schizophrenia fall into three main categories:

• Positive symptoms, which are unusual thoughts or perceptions that include hallucinations (disturbances of sensory perception), delusions (false beliefs) and thought disorder.

• Negative symptoms, which represent a loss or a decrease in the ability to initiate plans, speak, express emotion, or find pleasure in everyday life. These symptoms are harder to recognize as part of the disorder and can be mistaken for laziness or depression.

• Cognitive symptoms (or cognitive deficits), which are problems with attention, certain types of memory, and the executive functions that allow us to plan and organize. Cognitive deficits can also be difficult to recognize as part of the disorder but are the most disabling in terms of leading a normal life.

Treatments

Treatment is aimed at reducing symptoms and preventing psychotic relapses and is believed to be most effective when begun early in the course of the illness. Schizophrenia is usually treated with antipsychotic medication. Once acute symptoms have lessened, a combination of medicine and psychosocial/rehabilitation interventions can be beneficial. As a chronic condition, disease management is life-long process.

 

Source: The Brain and Behavior Research Foundation

Schizotaxia

A genetic predisposition for schizophrenia.

Schlegelberger Grote syndrome

A very rare syndrome characterized mainly by deafness, fingerlike thumbs and a blood disorder involving abnormally shaped blood platelets.

Schmidt syndrome

Schmidt’s syndrome is an autoimmune polyglandular syndrome first used to describe patients with both Addison’s disease and Hashimoto’s thyroiditis (autoimmune hypothyroidism). Today, the term Schmidt’s syndrome is used synonymously with autoimmune polyglandular syndrome type II to describe conditions of adrenal insufficiency occurring in conjunction with one or more of the following conditions: type 1 diabetes, Hashimoto’s thyroiditis, hypoparathyroidism (parathyroid hormone deficiency), or gonadal failure.

Schmitt Gillenwater Kelly syndrome

A very rare syndrome characterized mainly by fingerlike thumbs, short radial (forearm) bone and an abnormally placed urethral opening in males.

Schneckenbecken dysplasia

A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth.

Schnitzler Syndrome

Schnitzler syndrome is characterized by chronic, nonpruritic urticaria in association with recurrent fever, bone pain, arthralgia or arthritis, and a monoclonal immunoglobulin M (IgM) gammopathy in a concentration of usually less than 10 g/L. Approximately 10-15% of patients eventually develop a lymphoproliferative disorder, such as lymphoplasmacytic lymphoma, Waldenstrom macroglobulinemia, or IgM myeloma.

Schnyder Crystalline Corneal dystrophy

Schnyder Crystalline Corneal dystrophy, Schnyder Corneal dystrophy, or Hereditary crystalline dystrophy of Schnyder is a rare disorder characterized by cloudy corneas believed to be due to abnormal lipid deposits in the corneas. A distinctive sign of the condition is the presence of a light-colored ring around the cornea due to abnormal lipid deposit (arcus juvenilis).

Scholte syndrome

A very rare syndrome characterized mainly by premature balding, dislocated kneecap, hypogonadism and small hands and feet.

Schwannoma

A Schwannoma is tumor that develops from nerve sheath cells. Any nerve can be affected but it is most common on the sciatic, brachial and sacral plexus (leg, upper arm and lower back nerves). Symptoms are determined by the exact location of the tumor.

Schwannomatosis

Schwannomatosis is one form of a genetic disorder called neurofibromatosis (NF) that has only recently been recognized. Originally described in Japanese patients, it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF. It is a rare disorder, affecting only around 1 in 40,000 individuals.

Schwannomas are mostly benign tumors that commonly occur in individuals with NF2 and schwannomatosis (sometimes called neurofibromatosis type III). Schwann cells are glial cells that myelinate the axons of nerve cells. Myelin is a lipid covering that speeds the conduction of action potentials. When Schwann cells proliferate out of control in an encapsulation it is called a schwannoma. Although schwannomas are benign they become detrimental when the growing tumor compresses the nerve. Schwannomas on sensory nerve axons cause chronic severe pain. Treatment options for schwannomas are to surgically remove them, have radiation, cyberknife or Intracapsular Enucleation. Previous designations for schwannomas include neurinoma and neurilemmoma.