Rare diseases

5q- syndrome is a rare disorder caused by loss of part of the long arm (q arm) of human chromosome 5. This syndrome affects myeloid ( bone marrow) cells, causing treatment-resistant anemia, and myelodysplastic syndromes that may lead to acute myelogenous leukemia. ...more on Wikipedia about "5q- syndrome"

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase ( PBG-D), also known as uroporphyrinogen I-synthase. This enzyme deficiency results in the accumulation of porphyrins or porphyrin precursors in the body. These are natural chemicals that normally do not accumulate in the body. This enzyme deficiency by itself is not sufficient to produce symptoms of the disease ( latent). Additional factors must also be present such as hormones, drugs and dietary changes that trigger the appearance of symptoms. Symptoms of AIP may include abdominal pain, constipation, and muscle weakness. ...more on Wikipedia about "Acute intermittent porphyria"

Cholesteryl ester storage disease is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Just like Wolman disease, it is a type of acid lipase deficiency. Children develop an enlarged liver leading to cirrhosis and chronic liver failure before adulthood. Children may also have calcium deposits in the adrenal glands and may develop jaundice late in the disorder. ...more on Wikipedia about "Cholesteryl ester storage disease"

In medicine ( dermatology) Epidermolysis bullosa (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This condition is not contagious. The condition was brought to public attention in the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of English sufferer Jonny Kennedy. ...more on Wikipedia about "Epidermolysis bullosa"

Farber disease (also known as Farber’s lipogranulomatosis or ceramidase deficiency) describes a group of rare autosomal recessive disorders that cause an accumulation of fatty material in the joints, tissues and central nervous system. The disorder affects both males and females. Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber’s disease develop neurological symptoms within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthemas which thicken around joints as the disease progresses. Patients with breathing difficulty may require insertion of a breathing tube. Most children with the disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen (hepatosplenomegaly) can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months. ...more on Wikipedia about "Farber disease"

Glanzmann's thrombasthenia is an extremely rare, autosomal recessive disorder of the blood, in which the platelets lack GPIIb/IIIa. Hence, no fibrinogen bridging can occur, and bleeding time is significantly prolonged. ...more on Wikipedia about "Glanzmann's thrombasthenia"

Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss and arrhythmia, it is a type of long QT syndrome. This condition is inherited in an autosomal recessive pattern, and affects an estimated 1.6 to 6 in 1 million children, and is responsible for less than 10 percent of all cases of long QT syndrome. ...more on Wikipedia about "Jervell and Lange-Nielsen syndrome"

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. This condition is inherited in an autosomal recessive pattern. Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel. ...more on Wikipedia about "Krabbe disease"

Laryngeal papillomatosis is a rare medical condition, caused by an HPV infection of the throat. It causes assorted tumors, papillomas, to develop over a period of time. This condition obstructs the airway, and without treatment, it is potentially fatal. ...more on Wikipedia about "Laryngeal papillomatosis"

Legg-Calvé-Perthes syndrome is a degenerative disease of the hip joint, where a loss of bone mass leads to some degree of collapse of the hip joint, that is, to deformity of the ball of the femur and the surface of the hip socket. The disease is typically found in young children, though it also affects small dogs. ...more on Wikipedia about "Legg-Calvé-Perthes syndrome"

Leontiasis Ossea, also known as leontiasis or lion face, is a rare disease, found in patients who have advanced lepromatous leprosy, characterized by an overgrowth of the facial and cranial bones. The common form is that in which one or other maxilla is affected, its size progressively increasing both regularly and irregularly, and thus encroaching on the cavities of the orbit, the mouth, the nose and its accessory sinuses. Exophthalmos gradually develops, going on later to a complete loss of sight due to compression of the optic nerve by the overgrowth of bone. There may also be interference with the nasal respiration and with the taking of food. In the somewhat less common form of this rare disease the overgrowth of bone affects all the cranial bones as well as those of the face, the senses being lost one by one and death finally resulting from cerebral pressure. There is no treatment other than exposing the overgrown bone, and chipping away pieces, or excising entirely where possible. ...more on Wikipedia about "Leontiasis Ossea"

Mal de debarquement Syndrome (MDD or MdDS) is a rare condition whose symptoms include continuing imbalance sensation. Travellers often experience this sensation temporarily after disembarking a sea cruise or a long airplane flight, but in the case of MdDS sufferers it can persist for 6-12 months or even many years. ...more on Wikipedia about "Mal de debarquement"

Menkes disease (also called the kinky hair disease or Menke's kinky hair syndrome) is a disorder that affects copper levels in the body. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Onset of Menkes syndrome typically begins during infancy. Signs and symptoms of this disorder include weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, and developmental delay. The patients have brittle hair and metaphyseal widening. In rare cases, symptoms begin later in childhood and are less severe. It is a X-linked recessive disorder, therefore males have the disease, while females are carriers. It was originally described by Menkes et al in 1962. ...more on Wikipedia about "Menkes disease"

MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only four cases around the world. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders. ...more on Wikipedia about "MOMO syndrome" The view on shortopedia.

Oculopharyngeal dystrophy (OPD), or oculopharyngeal muscular dystrophy, is a form of muscular dystrophy characterized in some stages by deformation of the eyelid, speech impediment, and difficulty swallowing due to dystrophia of the pharynx. ...more on Wikipedia about "Oculopharyngeal muscular dystrophy"

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease characterised by hemolytic anemia, thrombosis and red urine due to breakdown of red blood cells. PNH is the only hemolytic anemia caused by an acquired intrinsic defect in the cell membrane. ...more on Wikipedia about "Paroxysmal nocturnal hemoglobinuria"

Progeria is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. The disease affects around 100 in 48 million newborns. Currently, there are approximately 35 known cases in the world. There is no known cure. Most people with progeria die around 13 years of age. Progeria is of interest to scientists because the disease may reveal clues about factors involved in the process of aging, because it is an "accelerated aging" disease. But unlike most other "accelerated aging diseases" (like Werner's syndrome), progeria is not caused by defective DNA repair. ...more on Wikipedia about "Progeria"

Proteus Syndrome (PS) is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors on over half the body. Proteus Syndrome is extremely rare. Since Dr. Michael Cohen identified it in 1979, only a few more than 100 cases have been confirmed worldwide. There may be many more than this, but those individuals correctly diagnosed usually have the most obvious manifestations of Proteus syndrome, leaving them severely disfigured. ...more on Wikipedia about "Proteus syndrome"

A rare disease has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. Rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. ...more on Wikipedia about "Rare disease"

Severe Combined Immunodeficiency, or SCID, is a genetic disorder in which both "arms" ( B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and must live (if untreated) in a completely sterile environment. The most famous case is the boy David Vetter. ...more on Wikipedia about "Severe combined immunodeficiency"

Superior canal dehiscence is a very rare medical condition when people become hyper-sensitive to sound. ...more on Wikipedia about "Superior canal dehiscence" Pure www.shortopedia.com. Pure Information Power. Rare_diseases

Thrombotic thrombocytopenic purpura (TTP or Moschcowitz disease) is a rare disorder of the blood coagulation system that in most cases arises from the deficiency or inhibition of the enzyme ADAMTS13, which is responsible for cleaving large multimers of von Willebrand factor. It is a serious condition that leads to hemolysis and end-organ damage, and may require plasmapheresis therapy. ...more on Wikipedia about "Thrombotic thrombocytopenic purpura"

Van Goethem Syndrome, also called radiodigitofacial dysplasia, is a birth defect. ...more on Wikipedia about "Van Goethem syndrome"

Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ...more on Wikipedia about "Von Hippel-Lindau disease"

Waldenström macroglobulinemia (WM) is a hematological malignancy involving lymphocytes. It is a type of nonaggressive non-Hodgkin lymphoma. It is also classified as a lymphoplasmacytic lymphoma. ...more on Wikipedia about "Waldenström macroglobulinemia"

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