Lactate dehydrogenase deficiency: An inherited genetic muscle disease where an enzyme deficiency (lactate dehydrogenase) affects the normal processes that convert carbohydrates from food into energy which affects muscles. Lactate dehydrogenase facilitates the conversion of lactate to pyruvate and vice versa.
Lactate dehydrogenase deficiency type A: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type A) affects the conversion of carbohydrates to energy.
Lactate dehydrogenase deficiency type B: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type B) affects the conversion of carbohydrates to energy. The condition is generally asymptomatic.
Lactate dehydrogenase deficiency type C: A rare genetic disorder where an enzyme deficiency (Lactate dehydrogenase type C) affects the conversion of carbohydrates to energy. The type C enzyme is specific to sperm and the condition is generally asymptomatic.
Lactic acidosis congenital infantile: A rare congenital condition where an infant has high levels of lactic acid in the blood causing metabolic acidosis.
Ladda Zonana Ramer syndrome (medical condition): A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation. Ladda Zonana Ramer syndrome: Another name for Contractures - ectodermal dysplasia - cleft lip palate (or close medical condition association). Contractures - ectodermal dysplasia - cleft lip palate: A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation.
Lafora disease, is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells of the heart, liver, muscle, and skin. In a later study, Lafora disease has been and is now viewed as a neurodegenerative disease, since prior to the actual formation of Lafora bodies there has been seen to be an impairment in the development of cerebral cortical neurons. It was further concluded that Lafora disease is a complex neurodegenerative disease and also a glycogen metabolism disorder
Lagophthalmia and bilateral cleft lip and palate (medical condition): A very rare disorder characterized mainly by a cleft lip and palate and incomplete closure of the eyelids. Lagophthalmia and bilateral cleft lip and palate: Another name for Korula-Wilson-Salomonson syndrome (or close medical condition association). Korula-Wilson-Salomonson syndrome: A very rare disorder characterized mainly by a cleft lip and palate and incomplete closure of the eyelids.
Lambdoid synostosis familial: Premature fusion of certain skull bones that results in the back of the head being flat. In familial cases, it tends to run in families and other abnormalities are occasionally associated.
Lambert Eaton myasthenic syndrome is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer.
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
Lamellar ichthyosis, autosomal dominant form: A very rare dominantly inherited disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 2 is distinguished by the location of the genetic defect - chromosome 2q34
A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal large dark, plate-like scales. Type 3 is distinguished by the location of the genetic defect - chromosome 19p12-q12. This type also affects the ears and face to a greater degree than other types.
A very rare skin disorder characterized by severe hardening and thickening of skin on all parts of the body.
Landau-Kleffner syndrome (LKS) is a childhood disorder. A major feature of LKS is the gradual or sudden loss of the ability to understand and use spoken language. All children with LKS have abnormal electrical brain waves that can be documented by an electroencephalogram (EEG), a recording of the electric activity of the brain. Approximately 80 percent of the children with LKS have one or more epileptic seizures that usually occur at night. Behavioral disorders such as hyperactivity, aggressiveness and depression can also accompany this disorder. LKS may also be called infantile acquired aphasia, acquired epileptic aphasia or aphasia with convulsive disorder. This syndrome was first described in 1957 by Dr. William M. Landau and Dr. Frank R. Kleffner, who identified six children with the disorder.
A rare inherited neuromuscular disorder characterized mainly by progressive weakness and wasting of facial and shoulder and upper arm muscles. A rare form of the condition is noticeable at infancy and progresses rapidly.
A very rare disorder characterized by a missing fingers and hand bones, webbed fingers, duplicated big toe and hydrops.
A rare genetic disorder characterized by mesomelic dwarfism, small jaw and forearm abnormalities.
A rare disorder characterized by deformed forearms and lower legs, cloudy corneas and enlarged kidneys. In the reported case, death occurred in the newborn period from kidney and heart failure.
Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. Clinically, its manifestations range from isolated bone lesions to multisystem disease. LCH is part of a group of clinical syndromes called histiocytoses, which are characterized by an abnormal proliferation of histiocytes (an archaic term for activated dendritic cells and macrophages). These diseases are related to other forms of abnormal proliferation of white blood cells, such as leukemias and lymphomas.
The disease has gone by several names, including Hand–Schüller–Christian disease, Abt-Letterer-Siwe disease, and histiocytosis X, until it was renamed in 1985 by the Histiocyte Society.
A rare birth disorder involving a defect in the abdominal wall through which some of the abdominal contents may protrude. The defect occurs near the umbilical cord.
A very rare syndrome characterized mainly by very short stature and progressive stiffness of joints including the spine and hips.
A form of leukemia characterized by an increased number of circulating granular lymphocytes.
Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. It is often caused by mutations in the GHR gene and is inherited in an autosomal recessive manner. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1).
Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type 2 involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results.
A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
Larsen syndrome (LS), is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients. Patients suffering from Larsen syndrome normally present with a variety of symptoms including: congenital anterior dislocation of the knees, dislocation of the hips and elbows, flattened facial appearance, prominent foreheads, and depressed nasal bridges. Larsen syndrome can also cause a variety of cardiovascular anomalies and orthopedic abnormalities. This rare disorder is caused by a genetic defect in the gene encoding filamin B, a cytoplasmic protein that is important in regulating the structure and activity of the cytoskeleton. The gene that influences the emergence of Larsen syndrome is found in chromosome region, 3p21.1-14.1, a region containing Human type VII collagen gene. Larsen syndrome has recently been described as a mesenchyme disorder that affects the connective tissue of an individual. Autosomal dominant and recessive forms of the disorder have been reported, although most cases are autosomal dominant. Reports have found that in Western societies, Larsen syndrome can be found in 1 in every 100,000 births, however, this is most likely an underestimate because the disorder is frequently unrecognized or diagnosed as another disorder.