Diseases

Slavotinek Pike Mills Hurst syndrome

Slavotinek-Pike-Mills-Hurst syndrome: A very rare inherited syndrome characterized mainly by cataracts, short stature, learning difficulties, skeletal abnormalities and a motor system disorder.

Sly syndrome

Mucopolysaccharidosis type VII (Sly syndrome) is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.

The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. Other people with MPS VII typically begin to show signs and symptoms of the condition during early childhood. The features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VII, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) becomes cloudy, which can cause significant vision loss. People with MPS VII may also have recurrent ear infections and hearing loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition.

MPS VII causes various skeletal abnormalities that become more pronounced with age, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VII and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VII may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord.

The life expectancy of individuals with MPS VII depends on the severity of symptoms. Some affected individuals do not survive infancy, while others may live into adolescence or adulthood. Heart disease and airway obstruction are major causes of death in people with MPS VII.

Small Bowel Adenocarcinoma

Small bowel adenocarcinoma (SBA) is a rare malignancy of the gastrointestinal tract. However, these tumors are among those with worst prognosis. Vague clinical signs and symptoms and radiological diagnostic challenges often delay treatment, which negatively impacts the prognosis of the patients. However, recent advances in imaging technology, like multidetector computed tomography, magnetic resonance imaging, and capsule endoscopy, have made earlier and accurate diagnosis possible. Surgery is the treatment of choice followed by adjuvant therapy. However, there are no strict treatment guidelines available for the management of SBA. Most of the available evidence from colorectal and gastric carcinoma has been extrapolated to adequately manage SBA. Prognosis for SBA is better than gastric carcinoma but worse than colorectal carcinoma. Currently, there is not enough information on the molecular characteristics and tumor pathogenesis. Because the incidence of SBA is very low, there is a need for further studies to evaluate the possible application of newer investigative agents and strategies to obtain a better outcome within the framework of international collaborations.

Small cell lung cancer

Small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung.

There are two types of small cell lung cancer.

These two types include many different types of cells. The cancer cells of each type grow and spread in different ways. The types of small cell lung cancer are named for the kinds of cells found in the cancer and how the cells look when viewed under a microscope:

• Small cell carcinoma (oat cell cancer).

• Combined small cell carcinoma.

Source: National Cancer Institute (US)

Small intestine cancer- adult

The small intestine, or small bowel, lies between the stomach and the colon. The small intestine is about 6 m (20 ft) long. Its primary function is to digest and absorb nutrients. The small intestine makes up more than 70% of the length and 90% of the surface area of the gastrointestinal (GI) tract. The most common cancerous (malignant) tumors of the small bowel include adenocarcinoma, lymphoma, sarcoma, and carcinoids. * In industrialized countries, adenocarcinomas occur most often. * In developing countries, lymphomas are much more common. * All these tumors have the potential to invade the bowel wall, spread into adjoining lymph nodes, and move to distant organs (metastasize).

small lymphocytic lymphoma

Small lymphocytic lymphoma (SLL) is a B-cell lymphoma. Chronic Lymphocytic Leukemia (CLL) and Small Lymphocytic Lymphoma (SLL) are essentially the same disease, the only difference being where the cancer primarily occurs: When most of the cancer cells are located in the bloodstream and the bone marrow, the disease is referred to as CLL, although the lymph nodes and spleen are often involved.

When the cancer cells are located in the lymph nodes, the disease is called SLL.

Chronic lymphocytic leukemia (CLL) is a cancer of the lymphocytes (a type of white blood cell) that begins in the stem cells of the bone marrow and then invades the blood. Overtime, CLL may also spread to the lymph nodes and other organs including the liver, spleen and lungs. It occurs when the stem cells that make lymphocytes become out of control and produce increasing amounts of abnormal lymphocytes (also called leukemic cells). Eventually, these abnormal cells replace normal lymphocytes and can crowd out other types of normal blood cells, leading to the features of the condition. The exact underlying cause of CLL/SLL is unknown; however, approximately 5% of affected people have other family members with the condition, which suggests there may be a genetic component in rare cases. The best treatment depends on many factors including the stage of the condition, the age of the affected person, the blood cell counts, whether the CLL has recurred, and the signs and symptoms present in each person. 

Small non-cleaved cell lymphoma

Alternative Names: Burkitt lymphoma, B-cell lymphoma; High-grade B-cell lymphoma; Small non-cleaved cell lymphoma Burkitt lymphoma is a very fast growing form of non-Hodgkin's lymphoma.

Smallpox

Smallpox was an infectious disease caused by either of two virus variants, Variola major and Variola minor. The disease is also known by the Latin names Variola or Variola vera, derived from varius ("spotted") or varus ("pimple"). The disease was originally known in English as the "pox" or "red plague"; the term "smallpox" was first used in Britain in the 15th century to distinguish variola from the "great pox" (syphilis). The last naturally occurring case of smallpox (Variola minor) was diagnosed on 26 October 1977.

Infection with smallpox is focused in small blood vessels of the skin and in the mouth and throat before disseminating. In the skin it results in a characteristic maculopapular rash and, later, raised fluid-filled blisters. V. major produced a more serious disease and had an overall mortality rate of 30–35 percent. V. minorcaused a milder form of disease (also known as alastrim, cottonpox, milkpox, whitepox, and Cuban itch) which killed about 1 percent of its victims. Long-term complications of V. major infection included characteristic scars, commonly on the face, which occur in 65–85 percent of survivors. Blindness resulting from corneal ulceration and scarring, and limb deformities due to arthritis and osteomyelitis were less common complications, seen in about 2–5 percent of cases.

Smallpox is believed to have emerged in human populations about 10,000 BC. The earliest physical evidence of it is probably the pustular rash on the mummified body of Pharaoh Ramses V of Egypt. The disease killed an estimated 400,000 Europeans annually during the closing years of the 18th century (including five reigning monarchs), and was responsible for a third of all blindness. Of all those infected, 20–60 percent—and over 80 percent of infected children—died from the disease. Smallpox was responsible for an estimated 300–500 million deaths during the 20th century. As recently as 1967, the World Health Organization (WHO) estimated that 15 million people contracted the disease and that two million died in that year.

After vaccination campaigns throughout the 19th and 20th centuries, the WHO certified the global eradication of smallpox in 1979. Smallpox is one of two infectious diseases to have been eradicated, the other being rinderpest, which was declared eradicated in 2011.

Smith Lemli Opitz syndrome- type 1

Main name of condition: Smith-Lemli-Opitz Syndrome Other names or spellings for Smith-Lemli-Opitz Syndrome: Smith-Lemli-Opitz syndrome, type 1, SLO syndrome type 1, 7-Dehydrocholesterol reductase deficiency, RSH syndrome. hereditary developmental disorder; characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature; biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.

Smith Martin Dodd syndrome

Smith-Martin-Dodd syndrome: A very rare syndrome characterized mainly by small eyes, a hernia and a heart defect (tetralogy of Fallot).

Smith-Lemli-Opitz syndrome- type 2

Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.

Snakebite

A snakebite is an injury caused by a bite from a snake, often resulting in puncture wounds inflicted by the animal's fangs and sometimes resulting in envenomation. Although the majority of snake species are non-venomous and typically kill their prey with constriction rather than venom, venomous snakes can be found on every continent except Antarctica. Snakes often bite their prey as a method of hunting, but also for defensive purposes against predators. Since the physical appearance of snakes may differ, there is often no practical way to identify a species and professional medical attention should be sought.

source: wikipedia

Sneddon Syndrome

Sneddon Syndrome: A rare progressive inherited disorder involving the blood vessel disease and neurological symptoms.

Snowflake vitreoretinal degeneration

Snowflake vitreoretinal degeneration: An inherited eye disease involving degeneration of the retina and characterized by light-colored spots on the retina. It is a slow-progressing condition.

Snyder Robinson syndrome

Snyder-Robinson syndrome: A rare syndrome characterized by mental retardation, reduced muscle tone, abnormal walk, weak bones and an asymmetrical face.

Soft tissue sarcomas

Soft tissue sarcoma is a type of cancer that begins in the soft tissues. Soft tissues connect, support and surround other body structures. The soft tissues include muscle, fat, blood vessels, nerves, tendons and the lining of your joints.

Many types of soft tissue sarcoma exist. Some types are more likely to affect children, while others affect mostly adults.  Soft tissue sarcoma can occur anywhere in your body, but the most common types occur in the abdomen and in the arms and legs.

Sohval Soffer syndrome

Sohval-Soffer syndrome: A very rare syndrome characterized mainly by mental retardation, hypogonadism and skeletal abnormalities.

Somatostatinoma

Somatostatinoma is a rare endocrine pancreatic tumor that secretes excesses of the hormone "somatostatin". that secretes excesses of the hormone "somatostatin

Sommer Hines syndrome

Sommer hines syndrome (medical condition): A very rare syndrome characterized by the presence of only one finger (fifth finger) on each hand and one toe (fifth toe) on each foot

Sommer Rathbun Battles syndrome

Sommer rathbun battles syndrome is a rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation or it is characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormal kidneys.

Sommer Young Wee Frye syndrome

Sommer young wee frye syndrome: Another name for Craniofacial - deafness - hand syndrome (or close medical condition association). Craniofacial - deafness - hand syndrome: A very rare syndrome characterized by facial anomalies, deafness and hand abnormalities.

Sondheimer syndrome

Sondheimer syndrome: Another name for Coarse face - hypotonia - constipation (or close medical condition association). Coarse face - hypotonia - constipation: A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation.

Sonoda syndrome

Sonoda syndrome: An extremely rare disorder characterized by a congenital heart defect, round face, retarded development, short stature and various facial anomalies.

Sorbitol dehydrogenase deficiency

Sorbitol dehydrogenase deficiency (SORD Deficiency) is a progressive, debilitating hereditary neuropathy that affects peripheral nerves and motor neurons, resulting in significant disability, loss of sensory function and decreased mobility. Recently, mutations in the SORD gene resulting in loss of the enzyme sorbitol dehydrogenase (SORD) function, and consequent intracellular sorbitol accumulation, were shown to be responsible for disease in a subset of patients previously diagnosed with Charcot-Marie-Tooth disease (CMT2) or distal hereditary motor neuropathy (dHMN). These patients can now be more accurately diagnosed with SORD Deficiency.

SORD Deficiency impacts an estimated 1 in 100,000 individuals. In the U.S., there are about ~3,300 individuals with mutations in the SORD gene (~7-9% CMT2/dHMN patients). SORD’s role in metabolism is well defined, and an understanding of this genetic and biochemical basis of disease offers new opportunities for treatment of patients with neuropathy caused by SORD deficiency. There are currently no approved drugs for patients with SORD Deficiency.

Sotos syndrome

Sotos syndrome (also known as cerebral gigantism) is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age.