Tag: genetic disorders

  • LGS

    LGS Definition and Description of LGS Lennox-Gastaut Syndrome (LGS) is a severe form of epilepsy that typically emerges in childhood, characterized by multiple seizure types, including tonic seizures, atonic seizures, and atypical absence seizures. This condition presents challenges both in terms of seizure control and cognitive functioning. Diagnosis often occurs between the ages of two…

  • Lipodystrophy

    Lipodystrophy Definition and Description of Lipodystrophy Lipodystrophy is a rare group of disorders characterized by abnormal or degenerative conditions of the body fat. It involves either the total or partial loss of adipose (fat) tissue and can have significant metabolic repercussions. Medical definitions of lipodystrophy categorize it based on its etiology, which can be genetic,…

  • Labhart-Willi Syndrome

    Labhart-Willi Syndrome Definition and Description of Labhart-Willi Syndrome Labhart-Willi Syndrome (LWS) is a rare genetic disorder that is characterized by a range of symptoms affecting physical and mental development. It primarily involves growth abnormalities and hyperphagia, leading to obesity. Individuals with LWS may also exhibit distinctive facial features and cognitive impairments. This syndrome is linked…

  • LAM

    LAM Definition and Description of LAM Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease primarily affecting women of childbearing age. Characterized by the abnormal proliferation of smooth muscle-like cells in the lungs and sometimes in the lymphatic system, it leads to cystic destruction of lung tissue and impairments in pulmonary function. The exact etiology of…

  • Juvenile Retinoschisis

    Juvenile Retinoschisis Definition and Description of Juvenile Retinoschisis Juvenile Retinoschisis is a genetic eye disorder characterized by the splitting or separation of the retinal layers in the eye. This condition primarily affects children and young adults, leading to vision impairment. Retinoschisis can lead to a variety of visual disturbances, including blurred vision and difficulty seeing…

  • Jansen Disease

    Jansen Disease Definition and Description of Jansen Disease Jansen Disease is a rare genetic disorder that affects bone metabolism, primarily resulting in a condition known as hyperphosphatasia. It is characterized by elevated levels of alkaline phosphatase in the blood, which can lead to abnormal bone development. This condition is typically caused by mutations in the…

  • Immunodeficiency with Ataxia Telangiectasia

    Immunodeficiency with Ataxia Telangiectasia Definition and Description of Immunodeficiency with Ataxia Telangiectasia Immunodeficiency with Ataxia Telangiectasia (A-T) is a rare genetic condition that primarily affects the immune system and is characterized by progressive neurological decline. A-T results from mutations in the ATM gene, which is crucial for DNA repair and cellular response to stress. This…

  • Infantile Gaucher Disease

    Infantile Gaucher Disease Definition and Description of Infantile Gaucher Disease Infantile Gaucher Disease is a rare genetic disorder that primarily affects infants and continues into childhood. It is caused by a deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a type of fat called glucocerebroside. The accumulation of this fat in various…

  • Iceland Disease

    Iceland Disease Definition and Description of Iceland Disease Iceland Disease, often referred to in medical circles as a rare hereditary disorder, is characterized by the presence of specific genetic mutations that result in unique phenotypic expressions. This condition is primarily associated with changes in the skin and connective tissues. Those affected by Iceland Disease may…

  • Hutchinson-Gilford Syndrome (HGPS)

    Hutchinson-Gilford Syndrome (HGPS) Definition and Description of Hutchinson-Gilford Syndrome (HGPS) Hutchinson-Gilford Syndrome (HGPS), also known as progeria, is a rare genetic disorder characterized by rapid aging in children. Affected individuals usually appear normal at birth but begin to show signs of accelerated aging within the first two years of life. This condition primarily arises from…