Diseases

Sandhoff disease

Sandhoff disease, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive  neurodegenerative disorder is clinically almost indistinguishable from Tay-Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset.

Sandifer syndrome

Sandifer syndrome (or Sandifer's syndrome) is a paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features There is a significant correlation between the syndrome and gastroesophageal reflux disease (GERD); however, it is estimated to occur in less than 1% of children with reflux.[

Sanfilippo Syndrome

Mucopolysaccharidosis type III is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).

People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. Affected children often initially have delayed speech and behavior problems. They may become restless, destructive, anxious, or aggressive. Sleep disturbances are also very common in children with MPS III. This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression). In later stages of the disorder, people with MPS III may develop seizures and movement disorders.

The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. Individuals with MPS III typically have mildly "coarse" facial features, a large head (macrocephaly), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some people with MPS III have short stature, joint stiffness, or mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Affected individuals often develop chronic diarrhea and recurrent upper respiratory and ear infections. People with MPS III may also experience hearing loss and vision problems.

MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are distinguished by their genetic cause. The different types of MPS III have similar signs and symptoms, although the features of MPS IIIA typically appear earlier in life and progress more rapidly. People with MPS III usually live into adolescence or early adulthood.

Santos Mateus Leal syndrome

Santos-Mateus-Leal syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Santos-Mateus-Leal syndrome, or a subtype of Santos-Mateus-Leal syndrome, affects less than 200,000 people in the US population.

SAPHO syndrome

SAPHO syndrome is a chronic disorder that involves the skin, bone, and joints. SAPHO is an eponym for the combination of synovitis, acne, pustulosis, hyperostosis, and osteitis. Synovitis means inflammation of the joint lining (synovium). Typically, this is manifests as warmth, tenderness, pain, swelling, and stiffness of involved joints (arthritis). Acne is a skin condition featuring tiny areas of inflammation with pus formation at the hair follicles. Acne occurs most commonly on the face and upper back. Pustulosis is a very inflammatory skin condition resulting in large fluid-filled blister-like areas (pustules), typically on the palms of the hands and/or the soles of the feet. The skin of these areas peels and flakes (exfoliates). Hyperostosis means abnormal excessive growth of bone. The hyperostosis of the SAPHO syndrome frequently is located at the points of the bone where tendons attach. Osteitis means inflammation of the bone. Patients with SAPHO syndrome can develop inflammation of the sacroiliac joints (sacroiliitis) as well as inflammation of the spine (spondylitis) which leads to stiffness and pain of the neck and back.

Sarcoidosis

Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect how the organ works, leading to the symptoms of sarcoidosis. The granulomas can be found in almost any part of the body, but occur more commonly in the lungs, lymph nodes, eyes, skin, and liver. Although no one is sure what causes sarcoidosis, it is thought by most scientists to be a disorder of the immune system responding to an unknown substance, most likely something inhaled from the air. The course of the disease varies from person to person, but most people do very well with little or only modest treatment. It often goes away on its own, but in some people symptoms of sarcoidosis may last a lifetime. For those who need treatment, anti-inflammatory medications and immunosuppressants can help. In half of cases, sarcoidosis goes away on its own. In a few cases, however, sarcoidosis may last for years and may cause organ damage.

Sarcoidosis- pulmonary

A rare disease involving inflammation of the lungs which leads to the development of nodules, fibrosis and scarring of lung tissue.

Sarcoma botryoides

An aggressive form of cancer that arises from embryonic muscle cells. The tumor resembles a bunch of grapes and tends to occur in the genitourinary tract. Common locations are the cervix, vagina and bladder and very rare cases can occur in the bile duct or the soft tissues of the head and neck. It occurs most often in female infants and young children. Symptoms will vary depending on the exact location of the tumor

Sarcosinemia

A rare metabolic disorder where the blood level of sarcosine in increased due to a deficiency of sarcosine dehydrogenase which is needed to break it down. It is considered a harmless condition with no noticeable symptoms.

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.