Glossary

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  • Low vision

    Low vision involves a severe visual impairment, after correction, with visual functioning that can be improved through the use of adaptive aids. The term low vision involves visual impairments that prohibit the ability to read a newspaper even with the use of eyeglasses or contacts. For special education purposes, low vision is referred to as…

  • Low birth weight prematurity

    Low birth weight (LBW) infants may be born preterm (premature), at term but small for gestational age (SGA), or both preterm and SGA. LBW, very LBW (VLBW), extremely LBW (ELBW), and micropremie describe, respectively, those with birth weights of less than 2,500, 1,500, 1,000, or 800 grams. Premature and extremely premature infants are born before…

  • Long chain acyl coa dehydrogenase deficiency

    Long chain acyl coa dehydrogenase deficiency (LCAD) is a mitochondrial fatty acid oxidation disorder. The clinical phenotypes for this disease are hypertrophic cardiomyopathy with hypoglycemia and skeletal myopathy or hypoglycemia without cardiac manifestations.  

  • Lissencephaly

    Lissencephaly is a disorder of brain maturation in which the brain has limited or absent gyri and sulci, resulting in a smooth brain surface. It results when early migration patterns of neurons are disrupted. The cause is not certain, but both genetic and non-genetic explanations have been hypothesized, such as viral infections during the first…

  • Lichen sclerosis

    Lichen sclerosis (LS) is an uncommon, chronic skin disorder of unknown etiology. It is characterized by fairly typical skin lesions, mild to moderate itching, and eventually atrophy (thinning) of the skin in affected areas.  

  • Metachromatic leukodystrophy

    Metachromatic leukodystrophy (MLD) is the most common subgroup of the leukodystrophies, a group of disorders that affects the white matter or myelin sheath. MLD is associated with the accumulation of cerebroside sulfates, a group of myelin lipids (fats); it leads to staining (metachromasia) of brain and other nervous tissue that does not occur in other…

  • Acute lymphocytic leukemia

    Acute lymphocytic leukemia is a malignant condition in which immature white blood cells are produced in abnormally large quantities and disrupt normal blood cell growth. The blood cells, also referred to as blasts, accumulate in bone marrow, blood, and lymphatics, and they circulate throughout the blood and lymphatic system. Vital organs, including the lungs, kidney,…

  • Lethal multiple pterygium syndrome

    Lethal multiple pterygium syndrome (LMPS) is an inherited, congenital disorder. Its distinguishing features are the presence of pterygia (tight, weblike bands of skin) in various areas of the body and death prior to (stillborn) or immediately after birth.  

  • Leprechaunism

    Leprechaunism is caused by an autosomal recessive genetic anomaly believed to be associated with the insulin receptor gene resulting in an endocrine disorder associated with the overdevelopment of the pancreas, insulin resistance (circulating insulin levels > 1,000 μU/ml), and excessive estrogen. An autosomal recessive disease in which elfin features of the face are accompanied by…

  • Leopard syndrome

    The name LEOPARD syndrome comes from the acronym of its symptoms: lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). This syndrome is associated with high prevalence of cardiac abnormalities. Further descriptions of these symptoms are located in the characteristics box. The syndrome is inherited as an autosomal…

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