Diseases

Leprechaunism

A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.

Leprosy

Leprosy (from the Greek lepi (λέπι), meaning scales on a fish), or Hansen's disease, is a chronic disease caused by the bacteria Mycobacterium leprae and Mycobacterium lepromatosis.[1][2] Leprosy is primarily a granulomatous disease of the peripheral nerves and mucosa of the upper respiratory tract; skin lesions are the primary external symptom.[3] Left untreated, leprosy can be progressive, causing permanent damage to the skin, nerves, limbs and eyes. Contrary to popular belief, leprosy does not actually cause body parts to simply fall off

Leptospirosis

Leptospirosis (also known as Weil's disease, Weil's syndrome, canicola fever, canefield fever, nanukayami fever, 7-day fever and many more[1]) is a bacterial zoonotic disease caused by spirochaetes of the genus Leptospira that affects humans and a wide range of animals, including mammals, birds, amphibians, and reptiles. It was first described by Adolf Weil in 1886 when he reported an "acute infectious disease with enlargement of spleen, jaundice and nephritis". Leptospira was first observed in 1907 from a post mortem renal tissue slice.

Leri pleonosteosis

A ver rare inherited disorder involving skeletal malformations, short stature and flat facial features.

Leri-Weill syndrome

A rare genetic disorder characterized by short forearms, madelung deformity and short lower legs in some cases

Lethal congenital contracture syndrome 2

A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.

Letterer-Siwe disease

Letterer-Siwe disease is a type of histiocytosis[1] (a condition where histiocytes proliferate in the body.) It is sometimes classified as a form of Langerhans cell histiocytosis,[2] or as a form of histiocytosis X.[3] It is most commonly seen in children less than two years old. It is named for Erich Letterer and Sture Siwe

Leucocyte adhesion defect

Leukocyte-adhesion deficiency (abbreviated LAD), is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections.[1] The disorder is often divided into two separate genotypes called type I and type II, with type II being associated with fewer infections but more developmental delay

Leukocyte adhesion deficiency-I

Leukocyte adhesion deficiency type I (LAD-I) is a rare, inherited immunodeficiency disorder where white blood cells (leukocytes) struggle to adhere to blood vessel walls and migrate to infection sites. This deficiency leads to a range of serious health problems, primarily recurrent and severe bacterial and fungal infections

Leukodystrophy- psuedometachromatic

Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophiea effect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripherial nervous systems.

Leukoencephalopathy with vanishing white matter

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.

In most cases, people with leukoencephalopathy with vanishing white matter show no signs or symptoms of the disorder at birth. Affected children may have slightly delayed development of motor skills such as crawling or walking. During early childhood, most affected individuals begin to develop motor symptoms, including abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). There may also be some deterioration of mental functioning, but this is not usually as pronounced as the motor symptoms. Some affected females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using magnetic resonance imaging (MRI) are characteristic of leukoencephalopathy with vanishing white matter, and may be visible before the onset of symptoms.

While childhood onset is the most common form of leukoencephalopathy with vanishing white matter, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood, when behavioral or psychiatric problems may be the first signs of the disease. Some females with milder forms ofleukoencephalopathy with vanishing white matter who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

Progression of leukoencephalopathy with vanishing white matter is generally uneven, with periods of relative stability interrupted by episodes of rapid decline. People with this disorder are particularly vulnerable to stresses such as infection, mild head trauma or other injury, or even extreme fright. These stresses may trigger the first symptoms of the condition or worsen existing symptoms, and can cause affected individuals to become lethargic or comatose.

 

Leukomalacia

Softening or destruction of the white matter of the brain. Brain tissue that surrounds fluid-filled parts of the brain (ventricles) is destroyed. It tends to occur mainly in premature or newborn babies who have been deprived of oxygen or have poor blood flow to parts of the brain. Intrauterine infections and premature membrane rupture tend to predispose infants to this condition. This type of brain destruction can cause cerebral palsy. Severity of symptoms varies according to the degree of injury to the brain.

Leukonychia totalis

Leukonychia (or Leuconychia, also known as "White nails" ) is a medical term for white discoloration appearing on nails. It is derived from the Greek words Leuko white and Onyx nail. The most common cause is injury to the base of the nail (the matrix) where the nail is formed. A rare nail disorder where the whole of the nail is completely white at birth

Leukoplakia

Leukoplakia is adherent white plaques or patches on the mucous membranes of the oral cavity, including the tongue. The clinical appearance is highly variable. Leukoplakia is not a specific disease entity, but is diagnosis of exclusion. It must be distinguished from diseases that may cause similar white lesions, such as candidiasis or lichen planus.

Levator syndrome

Levator syndrome consists of pain, pressure, and discomfort in the region of the rectum, sacrum, and coccyx, which appears to be aggravated by sitting. This is also known as coccygodynia, levator ani syndrome, levator ani spasm syndrome, proctalgia fugax, and proctodynia.

Levine Crichley syndrome

A very rare inherited disorder mainly involving progressive muscle weakness and wasting, abnormal limb movement, progressive cognitive loss and red blood cell abnormalities.

Levotransposition of the great arteries

levo-Transposition of the great arteries (l-Transposition of the great arteries, levo-TGA, or l-TGA), also commonly referred to as congenitally corrected transposition of the great arteries (CC-TGA), is an acyanotic congenital heart defect (CHD) in which the primary arteries (the aorta and the pulmonary artery) are transposed, with the aorta anterior and to the left of the pulmonary artery; and the morphological left and right ventricles are also transposed.

Limb dystonia

A nerve disorder which affects muscles. It causes prolonged muscle spasms (contractions) which results in repeated twisting motions or abnormal limb postures.

Limb reduction defect

A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities.

Limb scalp and skull defects

Adams Oliver syndrome is a rare disorder identified in 1945 by Dr F H Adams and Dr C P Oliver. The syndrome is characterised by congenital scalp and skull defects. These defects can range from mild, with some skin and hair defect, through to severe when there may be defects of the underlying bone.