Diseases

Severe Aplastic Anemia

Severe Aplastic Anemia (SAA) is a rare, life-threatening bone marrow disorder where the body’s immune system attacks its own bone marrow, preventing it from producing enough blood cells. This leads to pancytopenia, characterized by low levels of red blood cells (causing fatigue and weakness), white blood cells (increasing infection risk), and platelets (leading to easy bruising and bleeding). Treatment options include immunosuppressive therapy (IST) to halt the autoimmune attack and, for eligible patients, a stem cell transplant (also called a bone marrow transplant) which offers the only potential cure.

Severe combined immunodeficiency

Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann–Riniker syndrome, severe mixed immunodeficiency syndrome, and thymic alymphoplasia, is a genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in heterogeneous clinical presentations. SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently, both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least nine different known genes in which mutations lead to a form of SCID. It is also known as the bubble baby disease and bubble boy disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment. SCID is the result of an immune system so highly compromised that it is considered almost absent.

SCID patients are usually affected by severe bacterial, viral, or fungal infections early in life and often present with interstitial lung disease, chronic diarrhea, and failure to thrive. Ear infections, recurrent Pneumocystis jirovecii (previously carinii) pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful hematopoietic stem cell transplantation.

Severe combined immunodeficiency- atypical

A rare blood disorder where the body's immune system is not functioning properly due to a deficiency of certain T lymphocytes and other T lymphocytes which are unable to be utilized.

Severe combined immunodeficiency- X-linked

A rare inherited disorder where a genetic mutation results in a deficiency of normal lymphocytes which results in a poorly functioning immune system. Sufferers are prone to infections which would probably be harmless in people with fully functioning immune systems.

Severe congenital neutropenia

A rare inherited blood disorder involving a lack of neutrophils which are a type of white blood cell needed to fight bacterial infections.

Severe Hypertriglyceridemia

Severe hypertriglyceridemia (SHTG) is a metabolic disorder characterized by critically high levels of triglycerides in the blood, defined in most clinical guidelines as a fasting triglyceride level 500 mg/dL ( 5.7 mmol/L). It is distinct from mild-to-moderate hypertriglyceridemia because it presents a high risk for acute pancreatitis, a life-threatening, often, inflammatory condition of the pancreas.

Sezary syndrome

A rare type of lymphoma characterized by skin redness, leukemia and enlarged lymph nodes.

Shapiro syndrome

A rare disorder characterized by recurring periods of hypothermia that occur for no obvious reason.

Sharp syndrome

In medicine, mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease, in which the body's defense system attacks itself. It is also known as Sharp syndrome. Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that causes signs and symptoms of several other connective tissue diseases. People with mixed connective tissue disease experience features of three other diseases — lupus, scleroderma and polymyositis. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease. Signs and symptoms of these three other diseases usually don't appear all at once. This makes diagnosing mixed connective tissue disease somewhat complicated. Often people with mixed connective tissue disease are first diagnosed with lupus. As the disease progresses and other signs and symptoms become apparent, the diagnosis is corrected. Mixed connective tissue disease occurs most often in women and is usually diagnosed in young adults in their 20s and 30s. However, children have occasionally been diagnosed with mixed connective tissue disease.

Shaver’s disease

Main name of condition: Shaver's disease Other names or spellings for Shaver's disease: bauxite pneumoconiosis, aluminium oxide Shaver-Ridell, non-nodular silicosis Shaver's disease: A progressive lung disorder caused by exposure to aluminium oxide which is present in bauxite fumes. The condition involves inflammation and damage to the air sacs in the lungs.

Sheehan syndrome

Alternative Names: Postpartum hypopituitarism; Postpartum pituitary insufficiency; Hypopituitarism Syndrome. Sheehan syndrome is a condition that may occur in a woman who bleeds severely during childbirth.

Shigellosis

Shigellosis, also known as bacillary dysentery in its most severe manifestation, is a foodborne illness caused by infection by bacteria of the genus Shigella. It accounts for less than 10% of the reported outbreaks of foodborne illness in the USA. Shigellosis rarely occurs in animals other than humans and other primates like monkeys and chimpanzees. The causative organism is frequently found in water polluted with human feces, and is transmitted via the fecal-oral route. The usual mode of transmission is directly person-to-person hand-to-mouth, in the setting of poor hygiene among children. Ten to fifteen (10-15)% of people affected will die. In the developing world, Shigella causes approximately 165 million cases of severe dysentery and more than 1 million deaths each year, mostly in children in the developing world. Shigella also causes approximately 580,000 cases annually among travelers and military personnel from industrialized countries.

Shith Filkins syndrome

Main name of condition: Spondylocostal dysostosis, Dandy-Walker Other names or spellings for Spondylocostal dysostosis, Dandy-Walker: Shith-Filkins syndrome. Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).

Short bowel syndrome

Short bowel syndrome is a group of problems related to poor absorption of nutrients that typically occurs in people who have had half or more of their small intestine removed. The small intestine and the large intestine, also called the colon, make up the bowel. The small intestine is where most digestion of food and absorption of nutrients occur. People with short bowel syndrome cannot absorb enough water, vitamins, and other nutrients from food to sustain life.

Short broad great toe macrocranium

Short broad great toe macrocranium: Another name for Collins-Sakati syndrome (or close medical condition association). Collins-Sakati syndrome: A very rare syndrome characterized mainly by a short, broad toe and a large head.

Short chain Acyl CoA dehydrogenase deficiency

Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a condition in which the body cannot oxidize fatty acids because an enzyme is either missing or not functioning correctly.

Short limb dwarf edema iris coloboma

Main name of condition: Wegmann Jones Smith syndrome Other names or spellings for Wegmann Jones Smith syndrome: Short limb dwarf, oedema, iris coloboma, Short limb dwarf, edema, iris coloboma. Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma.

Short limb dwarf lethal Colavita Kozlowski type

Main name of condition: Colavita-Kozlowski syndrome Other names or spellings for Colavita-Kozlowski syndrome: Short limb dwarf lethal Colavita Kozlowski type. Colavita-Kozlowski syndrome: A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth.

Short limbs abnormal face congenital heart disease

Short limbs - abnormal face - congenital heart disease: A very rare syndrome characterized by the association of short arms and legs, an abnormal facial appearance and congenital heart disease. Limb shortening tends to affects the arms more than the legs.

Short rib-polydactyly syndrome

Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.

Short rib-polydactyly syndrome- Beemer type

Short rib syndrome, Beemer type: Another name for Beemer-Langer syndrome (or close medical condition association). Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.

Short rib-polydactyly syndrome- Majewski type

Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.