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.
A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
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 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, 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.
A very rare syndrome characterized mainly by mental retardation, deafness, retinitis and schizophrenia.
A genetic predisposition for schizophrenia.
A very rare syndrome characterized mainly by deafness, fingerlike thumbs and a blood disorder involving abnormally shaped blood platelets.
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.
A very rare syndrome characterized mainly by fingerlike thumbs, short radial (forearm) bone and an abnormally placed urethral opening in males.
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 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 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).
A very rare syndrome characterized mainly by premature balding, dislocated kneecap, hypogonadism and small hands and feet.
A rare syndrome characterized mainly by vitiligo, psychomotor retardation, cleft lip and other facial anomalies.
A rare inherited disorder characterized by an eye abnormality, incoordination and short stature.
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 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.
A rare disorder characterized by increased pigmentation and a central nervous system malformation (myelomeningocele).
Schwartz-Jampel syndrome (SJS) is a rare, inherited condition of the skeletal and muscle systems that causes short stature, joint limitations, and particular facial features.
A rare disorder characterized mainly by bowed legs, knock knees and an enlarged head.
Scleredema is a skin disorder in which the skin thickens and hardens, sometimes with redness. What causes scleredema is not known. It is often associated with diabetes, and among people with diabetes, men are affected much more often than women (10:1). Scleredema may occur after a viral illness, or streptococcal throat infection, and in these cases females are affected twice as often as males. Despite being sometimes called scleredema adultorum, the disorder occurs in individuals of all ages and all ethnic backgrounds.
An inherited disorder affecting muscles and resulting in muscle weakness and wasting that starts from birth. The joints closest to the body tend to have limited movement whereas those in the hands and feet tend to be hyperextensible.
A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia.
Scleromyxedema, also known as lichen myxedematosus or papular mucinosis, is a rare disease that causes skin to become thick and hard, but appears ample rather than tight, as with most forms of scleroderma. It is a chronic connective tissue disorder where deposits of mucin form in the skin causing it to become red and raised. This makes moving affected areas difficult, and often causes disfiguration in the affected areas. The arms, legs, fingers, and face are the predominant areas that are affected by scleromyxedema (Lichen Myxedematosus, Elizabeth A Liotta, M.D., Assistant Professor, Department of Dermatology, Uniformed Services University of the Health Sciences). Severe cases of the scleromyxedema make breathing hard when it affects the lungs and blood circulation limited when it affects the heart. When either of these two components are present, a patient’s prognosis becomes poor.
A rare disorder characterized by abnormal hardening (sclerosis) of the bone and mental retardation.
A rare disorder that affects the lining of the digestive tract. The lining of the small bowel mesentery (membrane that joins small intestine to back of abdominal wall) becomes thickened and inflamed. The condition may be mild or severe enough to cause death. It may occur for no apparent reason or may be associated with previous abdominal surgery and certain inflammatory disorders such as sclerosing cholangitis.
is a recently described carcinoma of the thyroid gland associated with Hashimoto's thyroiditis and considered to have a relatively indolent clinical course. SMCE is characterized by extensive sclerosis, squamous and glandular differentiation, a concomitant inflammatory infiltrate rich in eosinophils, and a background of lymphocytic thyroiditis.
A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
A rare inherited disorder characterized by a skin disorder (atrophic skin fibrosis and keratoderma of the palms and soles), underdeveloped nails and bowel cancer .