Metaphyseal dysplasia is a very rare disorder in which the outer part of the shafts of long bones is unusually thin with a tendency to fracture. Aside from valgus knee deformities (commonly known as knock-knee), many patients with metaphyseal dysplasia exhibit few or no symptoms. However, the disorder comes in a variety of forms, some of which cause serious problems including mental retardation, blindness, and deafness.
Castration-resistant prostate cancer (CRPC) is a form of
advanced prostate cancer. With CRPC, the cancer no longer
completely responds to treatments that lower testosterone.
It shows signs of growth, like a rising PSA (prostate-specific
antigen), even with low levels of testosterone.
With Metastatic CRPC (mCRPC), the cancer stops
responding to hormone treatment, and it is found in other
parts of the body. It can spread to nearby lymph nodes,
bones, the bladder, rectum, liver, lungs, and maybe the
brain.
Metastatic insulinoma: A rare form of pancreatic cancer that causes excessive secretion of the hormone insulin and can spread to other parts of the body (metastasis).
Metastatic melanoma is a term used when melanoma cells of any kind (cutaneous, mucosal or ocular) have spread through the lymph nodes to distant sites in the body and/or to the body's organs. The most dangerous aspect of melanoma is its ability, in later stages, to spread (or metastasize) to other parts of the body.
Three groups of patients are identified: those with cutaneous, nodal, or gastrointestinal tract metastases; those with isolated pulmonary metastases; and those with liver, brain, or bone metastases.
Metastatic squamous neck cancer with occult primary: A type of cancer that occurs in the neck and has spread (metastasized) to the lymph nodes from a primary source that has not been able to be determined. Squamous cells are cells that line hollow organs as well as the skin and throat.
Metatarsus adductus is a foot deformity. The bones in the middle of the foot bend in toward the body
Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
Metatropic dwarfism is a severe skeletal dysplasia characterized by extremely small stature with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. This condition, caused by mutations in the TRPV4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner.
Methimazole antenatal infection: Fetal exposure to methimazole, an antithyroid agent.
Methionine adenosyltransferase deficiency: A rare inborn error of metabolism characterized by high methionine levels in the blood due to an enzyme deficiency (methionine adenosyltransferase). Most cases are asymptomatic but severe cases with very low enzyme activity can cause neurological symptoms.
Methylcobalamin deficiency cbl G type: An inherited organic acid disorder where an enzyme deficiency (cbl G) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of homocystine which results in harmful affects.
Methylcobalamin deficiency, cbl E complementation type: An inherited organic acid disorder where an enzyme deficiency (cbl E) impairs the body's ability to break down cobalamin in the diet. This results in a buildup of homocystine which results in harmful affects.
Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.
Methylmalonic acidemia (MMA, also called methylmalonic aciduria), first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.
Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated. It is estimated that this disorder has a frequency of 1 in 48,000 births, though the high mortality rate in diagnosed cases make exact determination difficult.
Methylmalonic acidemias are found with an equal frequency across ethnic boundaries
MMA+HCU stands for “methylmalonic acidemia with homocystinuria”. It is one type of organic acid disorder. People with MMA+HCU have problems breaking down and using certain amino acids and fatty acids from the food they eat.
MMA stands for “methylmalonic acidemia”. It is one type of organic acid disorder. People with MMA have problems breaking down and using certain amino acids and fatty acids from the food they eat.
Methylmalonic aciduria (cobalamin deficiency) cblB type, also known as MMAB, is a human gene
Methylmalonic aciduria - microcephaly - cataract: A very rare syndrome characterized mainly by excess methylmalonic acid in the urine, small head and cataracts.
Methylmalonicacidemia with homocystinuria, cbl D: An inherited organic acid disorder where an enzyme deficiency (cblD) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects
Methylmalonicacidemia with homocystinuria, cobalamin (cbl) J: It is a type of organic acid disorder. People with methylmalonicacidemia and homocystinuria have problems breaking down and using certain amino acids and fatty acids from the food they eat. More specifically, people with "Methylmalonicacidemia with homocystinuria, cbl J are unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke.
Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
Methylmalonicaciduria results from an autosomal recessive inherited genetic defect in methylmalonic CoA mutase (MCM), an enzyme required for the proper metabolism of some protein components, cholesterol, and fatty acids. As a result of a deficiency in MCM, methylmalonic acid accumulates in the bloodstream and urine, causing a severe metabolic disorder that may lead to death. Treatment consists chiefly of diet modification and the administration of several medications that may counteract this process
Mevalonic aciduria, also called mevalonate kinase deficiency, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.
Meyenburg-Altherr-Uehlinger syndrome: A rare disorder characterized by recurring inflammation of cartilage which results in deterioration of the cartilage. Any part of the body with cartilage may be affected - ears, nose bridge, larynx, trachea, aortic heart valve and around joints. Symptoms are determined by the part of the body that is affected. Breathing problems and even death can occur if the cartilage in the breathing airways or the aortic valve are affected.
MHC class 1 or class 2 deficiency: An inherited immunodeficiency disorder involving a deficiency of class I and II major histocompatibility complexes. Serious infections can result. Immunology. 1996 May; 88(1): 124–129. PMCID: PMC1456472 Copyright notice Impact of donor MHC class I or class II antigen deficiency on first- and second-set rejection of mouse heart or liver allografts. S Qian, F Fu, Y Li, L Lu, A S Rao, T E Starzl, A W Thomson, and J J Fung Department of Surgery, University of Pittsburgh Medical Center, PA, USA. Small right arrow pointing to: This article has been cited by other articles in PMC. Abstract The influence of donor major histocompatibility complex (MHC) class I- or class II-deficiency on the initiation of first- and second-set rejection of mouse heart and liver allografts was examined. C3H (H-2k) mice received heterotopic cardiac or orthotopic liver grafts from unmodified B10 (H-2b), B6 (H-2b), b2m (H-2b; class I deficient) or AB0 (H-2b; class II deficient) donors. Organ survival was also investigated in C3H recipients that had been presensitized by a normal B10 skin graft 2-3 weeks before heart or liver transplantation. The absence of cell surface MHC class I or class II resulted in significant prolongation of primary cardiac allograft survival. Three of seven (43%) MHC class I-deficient, and two of five (40%) class II-deficient heart grafts were accepted indefinitely (survival time > 100 days). Thus both MHC class I and class II molecules appear to be important for the elicitation of first-set rejection in the heart allograft model. All liver allografts survived > 100 days in normal recipients. In C3H recipients that had been presensitized by a B10 skin graft, however, both heart and liver grafts from AB0 (class II deficient) donors underwent accelerated rejection (median survival time [MST] 3 and 4 days, respectively). In contrast, liver grafts from class I-deficient mice (b2m) were still accepted indefinitely by B10 skin-presensitized C3H recipients, whereas class I-deficient hearts survived significantly longer than those from class II-deficient or normal donors. These data demonstrate that the expression of donor MHC class I, and not class II is crucial in initiating second-set organ allograft rejection. In vitro monitoring revealed that at the time of organ transplant, both splenocytes and serum of the skin-presensitized animals displayed high cytotoxicity against AB0 (class II-deficient) but not against b2m (class I-deficient) targets.
Michelin Tire Baby Syndrome (also known as "Folded skin with scarring" ), is characterized by multiple, symmetric, circumferential skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. They are reminiscent of these of the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism with high growth hormone and low somatomedin activity), and other defects. It was originally described by Ross in 1969. Twenty cases of this hamartomatous disorder have been reported.
Michels-Caskey syndrome: A very rare disorder characterized by underdeveloped thumbs, spine deformities and lack of development of the female reproductive organs such as the uterus and vagina (mullerian duct aplasia). The external genitalia may appear to be normal.