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  • diseases
  • These rheumatic diseases are marked by inflammation of your connective tissues, and it's common for people with Sjogren's syndrome to also have a connective tissue disorder. (thetole.com)
  • Sjogren's syndrome can be difficult to diagnose because the signs and symptoms are similar to those caused by other diseases and can vary from person to person. (thetole.com)
  • The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth. (diseaseinfosearch.org)
  • affects
  • S jogren's syndrome affects an estimated 1 million to 4 million people in the United States and is often defined by its two most common symptoms - dry eyes and a dry mouth. (thetole.com)
  • abnormal
  • In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine ( scoliosis ), and spontaneous bone fractures. (nih.gov)
  • People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. (nih.gov)
  • In Sturge-Weber syndrome , there is usually abnormal formation and growth of blood vessels within the two thin layers of tissue that cover the brain and spinal cord. (nih.gov)
  • Individuals with Sturge-Weber syndrome can have tangles of abnormal blood vessels (hemangiomas) in various parts of the eye. (nih.gov)
  • Children with the syndrome have abnormal facial development that cause an inverted smile, nerve connections are however normal. (wikipedia.org)
  • The term blepharospasm ['blef-a-ro-spaz-m] can be applied to any abnormal blinking or eyelid tic or twitch resulting from any cause, ranging from dry eyes to Tourette's syndrome to tardive dyskinesia. (wikipedia.org)
  • Rather, recent studies report that a subset of T cells (a special form of lymphocyte blood cell) found in several Gleich syndrome patients have an abnormal immunophenotype, i.e. they express CD3-, CD4+ cluster of differentiation cell surface antigens. (wikipedia.org)
  • dysfunction
  • In infants with Stüve-Wiedemann syndrome , dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. (nih.gov)
  • Irritable bowel syndrome (IBS) is a chronic condition characterised by abdominal pain, bowel dysfunction, and abdominal bloating in the absence of any structural abnormality. (bmj.com)
  • People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders. (nih.gov)
  • Psychiatric syndromes often called psychopathological syndromes (psychopathology is a psychic dysfunction occurring in mental disorder, also it's the study of the origin, diagnosis, development, and treatment of mental disorders). (wikipedia.org)
  • The pain associated with postcholecystectomy syndrome is usually ascribed to either sphincter of Oddi dysfunction or to post-surgical adhesions. (wikipedia.org)
  • IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage. (wikipedia.org)
  • irritable bowel sy
  • Irritable bowel syndrome is often dismissed as just being a nuisance rather than anything more serious, but its symptoms can seriously diminish a patient's quality of life. (bmj.com)
  • 1 About 10-15% of the adult population in the United Kingdom is affected by irritable bowel syndrome. (bmj.com)
  • 2017
  • HERTZLIYA, Israel , Sept. 12, 2017 /PRNewswire/ -- XTL Biopharmaceuticals Ltd. (NASDAQ: XTLB, TASE: XTLB.TA) ("XTL" or the "Company"), a clinical-stage biopharmaceutical company developing treatments for autoimmune diseases, today announced the Company has received additional preclinical data regarding the role of hCDR1 as a potential treatment for Sjögren's syndrome (SS) from Prof. Edna Mozes of The Weizmann Institute of Science and the developer of hCDR1. (yahoo.com)
  • neurological
  • Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain's inability to control breathing (central apnea), loss of the sense of smell, loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. (nih.gov)
  • Wolfram syndrome is often fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems. (nih.gov)
  • symptom
  • Non-functioning ovaries are another symptom of Turner syndrome. (genome.gov)
  • Diabetes mellitus is typically the first symptom of Wolfram syndrome , usually diagnosed around age 6. (nih.gov)
  • Kallmann syndrome has an additional symptom of a total lack of sense of smell or a reduced sense of sense of smell which distinguishes it from other forms of hypogonadotropic hypogonadism. (wikipedia.org)
  • Incontinence is another easily detectable symptom of the syndrome that is due to detrusor-sphincter discoordination, although it can easily be mistaken for pyelonephritis. (wikipedia.org)
  • systemic
  • We are pleased by the results of this extension study, which reinforce the potential of hCDR1 to provide patients with Sjögren's syndrome with the first-ever approved therapy to treat the systemic manifestations of the disease," said Josh Levine , CEO of XTL. (yahoo.com)
  • Given Sjögren's syndrome and systemic lupus erythematosus may have similar but distinct disease manifestations, this data further supports the positive results of our prior Phase 2 study of hCDR1 in treating SLE. (yahoo.com)
  • Sjögren's syndrome is a systemic autoimmune disease with some autoantibodies and clinical manifestations similar to those detected in SLE. (yahoo.com)
  • There is no approved specific drug for the treatment of systemic manifestations in Sjögren's syndrome. (yahoo.com)
  • Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary cirrhosis and progressive systemic sclerosis. (wikipedia.org)
  • Pseudoexfoliation syndrome, often abbreviated as PEX and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. (wikipedia.org)
  • autoimmune
  • Why Is the Study of Autoimmune Lymphoproliferative Syndrome (ALPS) a Priority for NIAID? (nih.gov)
  • Volker Stadie, Johannes Wohlrab, Wolfgang Christian Marsch: The Reynolds Syndrome - a Rare Combination of Two Autoimmune Diseases. (wikipedia.org)
  • cause
  • The cause of Reye syndrome is unknown. (medlineplus.gov)
  • In individuals with Sturge-Weber syndrome , glaucoma typically develops either in infancy or early adulthood and can cause vision impairment. (nih.gov)
  • Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage. (wikipedia.org)
  • It has been postulated that reactivation of varicella zoster virus (which causes chickenpox and shingles) in the enteric ganglia may be a cause of Ogilvie syndrome. (wikipedia.org)
  • Its cause is unknown, but it is unrelated to capillary leak syndrome (which may cause similar swelling episodes) and eosinophilia-myalgia syndrome (which features eosinophilia but alternative symptoms). (wikipedia.org)
  • intestinal
  • In addition to the usual features of Wolfram syndrome , individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. (nih.gov)
  • severity
  • About 65 percent of people with Wolfram syndrome have sensorineural deafness that can range in severity from deafness beginning at birth to mild hearing loss beginning in adolescence that worsens over time. (nih.gov)
  • The most important psychopathological syndromes were divided by severity by German psychiatrist Emil Kraepelin (1856-1926) into three groups. (wikipedia.org)
  • symptoms and s
  • Some of the symptoms and signs of IPEX syndrome are the following: Lymphadenopathy Eczema Hypothyroidism Diarrhea Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is inherited in males via an x-linked recessive manner. (wikipedia.org)
  • cognitive
  • People with Sturge-Weber syndrome have varying levels of cognitive function, from normal intelligence to intellectual disability. (nih.gov)
  • Practice
  • The syndrome is named after the Austrian pediatrician Hans Asperger who, in 1944, described children in his practice who lacked nonverbal communication, had limited understanding of others' feelings, and were physically clumsy. (wikipedia.org)
  • pathogenesis
  • In medicine a broad definition of syndrome is used, which describes a collection of symptoms and findings without necessarily tying them to a single identifiable pathogenesis. (wikipedia.org)
  • develops
  • Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. (nih.gov)
  • childhood
  • In early childhood, girls who have Turner syndrome may have frequent middle ear infections. (genome.gov)
  • Growth in children with Turner syndrome is characterized by a slight intrauterine growth restriction, slow growth during infancy and childhood, and lack of a pubertal growth spurt. (aappublications.org)
  • type
  • Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used. (nih.gov)
  • X-Linked Opitz G/bbb Syndrome, also known as opitz syndrome, x-linked , is related to opitz gbbb syndrome, type i and opitz-gbbb syndrome . (malacards.org)
  • Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. (diseaseinfosearch.org)
  • People with Wolfram syndrome type 2 do not develop diabetes insipidus. (nih.gov)
  • Only a few families from Jordan have been found to have Wolfram syndrome type 2. (nih.gov)
  • Chronic diarrhea in postcholecystectomy syndrome is a type of bile acid diarrhea (type 3). (wikipedia.org)
  • Meige's syndrome is a type of dystonia. (wikipedia.org)
  • Gleich's syndrome or episodic angioedema with eosinophilia is a rare disease in which the body swells up episodically (angioedema), associated with raised antibodies of the IgM type and increased numbers of eosinophil granulocytes, a type of white blood cells, in the blood (eosinophilia). (wikipedia.org)
  • Of importance is that this syndrome will result in a pain generating 4th lumbar disc resulting in a "sciatic" type of a pain correlating to the 5th lumbar nerve root. (wikipedia.org)
  • Causes
  • Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. (nih.gov)
  • often
  • Turner syndrome, however, is not always accompanied by distinctive features and most often is not diagnosed in infancy. (aappublications.org)
  • The irregular borders of the café-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. (nih.gov)
  • Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. (wikipedia.org)
  • people
  • Please support our appeal to help make sure that people with Down's syndrome are given the healthcare they need throughout their lives. (downs-syndrome.org.uk)
  • People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). (diseaseinfosearch.org)
  • Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. (nih.gov)
  • Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. (nih.gov)
  • Most people with Sturge-Weber syndrome are born with a port-wine birthmark. (nih.gov)
  • In people with Sturge-Weber syndrome , the port-wine birthmark is on the face, typically on the forehead, temple, or eyelid. (nih.gov)
  • If left untreated people with Kallmann syndrome will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably be infertile and be at increased risk of developing osteoporosis. (wikipedia.org)
  • Many people with this syndrome will die in their teens to early 20s because of the renal failure (uropathy) if not diagnosed and treated. (wikipedia.org)
  • rare
  • Stüve-Wiedemann syndrome is a rare condition that has been found worldwide. (nih.gov)
  • Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently had a viral infection. (medlineplus.gov)
  • The classical syndrome related to otitis media has become very rare after the antibiotic era. (wikipedia.org)
  • features
  • The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin ( diabetes mellitus ) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). (nih.gov)
  • There are two types of Wolfram syndrome with many overlapping features. (nih.gov)
  • Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye ( glaucoma ). (nih.gov)
  • Not all individuals with Sturge-Weber syndrome have all three features. (nih.gov)
  • In biology, "syndrome" is used in a more general sense to describe characteristic sets of features in various contexts. (wikipedia.org)
  • include
  • Other symptoms of the syndrome include: retroorbital pain due to pain in the area supplied by the ophthalmic branch of the trigeminal nerve (fifth cranial nerve), abducens nerve palsy (sixth cranial nerve), and otitis media. (wikipedia.org)
  • disease
  • Today, as many as 4 million Americans are living with this disease, according to the Sjögren's Syndrome Foundation. (yahoo.com)
  • In other instances, a syndrome is not specific to only one disease. (wikipedia.org)
  • In 1977, two doctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. (wikipedia.org)