Eponymous diseases Eponymous diseases 22q11.2 deletion syndrome (also called DiGeorge syndrome and velocardiofacial syndrome) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. It has a birth incidence estimated at 1:1800. ...more on Wikipedia about "22q11.2 deletion syndrome"
Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. Intelligence is usually normal. ...more on Wikipedia about "Aarskog syndrome"
Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed. It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith. ...more on Wikipedia about "Aase syndrome"
Abderhalden-Kaufman-Lignac syndrome is an autosomal recessive disease of childhood comprising cystinosis and renal rickets. ...more on Wikipedia about "Abderhalden-Kaufmann-Lignac syndrome"
Achard-Thiers syndrome combines the features of Adrenogenital syndrome and Cushing syndrome. It is also known as diabetic-bearded woman syndrome (diabète des femmes à barbe). ...more on Wikipedia about "Achard-Thiers syndrome"
Addison's disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder, first described by British physician Thomas Addison. ...more on Wikipedia about "Addison's disease"
Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum, retinal abnormalities, and seizures (often infantile spasms). ...more on Wikipedia about "Aicardi syndrome"
Alexander disease is a slowly progressing fatal neurodegenerative disease. ...more on Wikipedia about "Alexander disease"
Alice in Wonderland syndrome (AIWS), or micropsia, is a disorienting neurological condition which affects human visual perception. ...more on Wikipedia about "Alice in Wonderland syndrome"
Alpers' disease, also called progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified. Pathologically, there is status spongiosus of the cerebral grey matter. ...more on Wikipedia about "Alpers' disease"
Alport syndrome is a genetic condition characterized by the progressive loss of kidney function and hearing. Alport syndrome can also affect the eyes. The presence of blood in the urine ( hematuria) is almost always found in this condition. ...more on Wikipedia about "Alport syndrome"
Angelman syndrome (AS) is neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behavior. ...more on Wikipedia about "Angelman syndrome"
Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, characterized by a number of clinical features, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla ...more on Wikipedia about "Apert syndrome"
Arnold-Chiari malformation, sometimes referred to as 'Chiari malformation' or ACM, is a congenital anomaly of the brain in which the cerebellar tonsils are elongated and pushed down through the opening of the base of the skull (see foramen magnum), blocking the flow of cerebrospinal fluid (CSF). The brainstem, cranial nerves and the lower portion of the cerebellum may be stretched or compressed. Therefore, any of the functions controlled by these areas may be affected. The blockage of CSF flow may also cause a syrinx to form ( syringomyelia). ...more on Wikipedia about "Arnold-Chiari malformation"
Asherman's syndrome, also called "uterine synechiae", presents a condition characterized by the presence of scars within the uterine cavity. ...more on Wikipedia about "Asherman's syndrome"
A Baker's cyst, otherwise known as a popliteal cyst, is a benign swelling found over the knee joint. It is named after the surgeon who first described it, Dr. William Morrant Baker (1839-1896). ...more on Wikipedia about "Baker's cyst"
Balint's syndrome, identified by Rezső (Rudolf) Bálint in 1909, is characterized by optic ataxia (the inability to accurately reach for objects), optic apraxia (the inability to voluntarily guide eye movements/ change to a new location of visual fixation), and simultanagnosia (the inability to preceive more than one object at a time, even when in the same place). Balint's syndrome is the result of visual binding deficits. ...more on Wikipedia about "Balint's syndrome"
Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. ...more on Wikipedia about "Bardet-Biedl syndrome"
As opposed to Barlow's disease which is infantile scurvy, Barlow's syndrome is the eponymous name for mitral valve prolapse, causing mitral regurgitation. ...more on Wikipedia about "Barlow's syndrome"
Barrett's esophagus refers to an abnormal change ( metaplasia) in the cells of the lower end of the esophagus thought to be caused by damage from chronic acid exposure, or reflux esophagitis. Barrett's esophagus is found in about 10% of patients who seek medical care for heartburn ( gastroesophageal reflux). It is considered to be a premalignant condition and is associated with an increased risk of esophageal cancer. ...more on Wikipedia about "Barrett's esophagus"
Beckwith-Wiedemann syndrome (BWS) is a very rare genetic overgrowth syndrome (prevalence of about 1 in 36,000). This condition is caused either by mutations in DNA or by errors in imprinting. ...more on Wikipedia about "Beckwith-Wiedemann syndrome"
Behçet’s disease, (formerly known as Behçet’s syndrome), is a chronic condition due to disturbances in the body’s immune system. This system, which normally protects the body against infections by producing controlled inflammation, becomes overactive and produces unpredictable outbreaks of exaggerated inflammation. This extra inflammation affects blood vessels, usually the small ones. As a result, symptoms occur wherever there is a patch of inflammation, and can be anywhere where there is a blood supply. (Taken from http://www.behcets.org.uk/) ...more on Wikipedia about "Behçet's disease"
Bell's palsy (facial palsy) is characterised by facial drooping on the affected half, due to malfunction of the facial nerve (VII cranial nerve), which controls the muscles of the face. Named after Scottish anatomist Charles Bell, who first described it, Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve), and is the most common cause of acute facial nerve paralysis. The paralysis is of the infranuclear/lower motor neuron type. Bell’s palsy affects about 40,000 people in the United States every year. It affects approximately 1 person in 65 during a lifetime. Until recently, its cause was unknown in most cases, but it has now been related to both Lyme disease and Herpes simplex. ...more on Wikipedia about "Bell's palsy"
Binswanger's disease is a rare form of multi-infarct dementia caused by damage to deep white brain matter. It is characterized by loss of memory and intellectual function and by changes in mood. ...more on Wikipedia about "Binswanger's disease"
Birt-Hogg-Dubé syndrome (BHD) is a rare human genetic disorder. The disorder has been reported in more than 30 families, and it is inherited in an autosomal dominant pattern. ...more on Wikipedia about "Birt-Hogg-Dubé syndrome"
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