Category: L

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 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 (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.  

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 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…

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…

Leigh Syndrome, also termed subacute necrotizing encephalomyelopathy, presents as a progressive neurometabolic disorder and often results from mitochondrial DNA mutation. Such mutations disrupt the mitochondria’s ability to produce the cellular energy. Furthermore, the central nervous system appears to be most directly affected by mitochondrial dysfunction. The onset of Leigh syndrome is usually prior to 2…

Legg-Calve-Perthes disease, or avascular necrosis of the femoral head, involves loss of blood supply to the proximal epiphysis of the femur. The etiology of this disease is unknown.  

Laurence-Moon syndrome (LMS) is a rare inherited disorder. It is thought to be inherited as an autosomal recessive genetic trait. There is some confusion regarding the difference between Laurence-Moon syndrome and Bardet-Biedl syndrome. Some researchers believe that Bardet-Biedl Syndrome is a subdivision of Laurence-Moon Syndrome, and they refer to it as Laurence-Moon-Bardet-Biedl Syndrome.  

Laband syndrome, also known as Zimmermann-Laband syndrome, is a rare genetic disorder characterized by craniofacial abnormalities, abnormalities of the hands and feet, and gingival fibromatosis. This is an autosomal dominant genetic condition that impacts tissues all over the body. It leads to bone irregularities, extremely flexible joints, finger clubbing, and absence of nails. Additional characteristics…