Cystic Fibrosis Cystic fibrosis is one of the most well-known genetic diseases and is very feared because of its consequences. The cause is merely a diseased gene, which leads to a so-called “chloride channel” (CFTR channel) being shaped incorrectly. As a result, numerous cells and organs of the body produce highly viscous secretions, which can … Cystic Fibrosis | Genetic test – When is it useful?
Alström syndrome is a genetic disease that manifests early during childhood. It affects the entire organ system and is associated with a short life expectancy. What is Alström syndrome? Alström syndrome is an extremely rare inherited disorder that affects only a few hundred children and adults worldwide. Alström syndrome is an extremely rare inherited disorder … Alstroem Syndrome: Causes, Symptoms & Treatment
Keratitis-ichthyosis-deafness syndrome is a disease that is passed on genetically to offspring. Keratitis-ichthyosis-deafness syndrome is comparatively rare. The common abbreviation for the disease term is KID syndrome. Keratitis-ichthyosis-deafness syndrome is primarily characterized by impaired keratinization of the skin, hearing loss, and an inflamed cornea. What is keratitis-ichthyosis-deafness syndrome? Keratitis-ichthyosis-deafness syndrome is synonymously referred to as … Keratitis-ichthyosis Deafness Syndrome: Causes, Symptoms & Treatment
WAGR syndrome refers to the absence of a set of genes on the 11th chromosome. This disorder can lead to a number of conditions that may include tumors in the kidneys, cancer, eye disease, urogenital problems, mental retardation, and other diseases. What is WAGR syndrome? WAGR syndrome is a rare genetic condition that can affect … WAGR Syndrome: Causes, Symptoms & Treatment
Hypochondrogenesis is a very rare hereditary disease that manifests itself by multiform deformities of the human skeleton. To date, only a few cases are known. It was first described in 1921, when physicians associated it with dwarfism. After that, hypochondrogenesis received little attention in medical literature and research. In 1977, the disease was redefined and … Hypochondrogenesis: Causes, Symptoms & Treatment
CHILD syndrome belongs to the group of hereditary skin diseases called genodermatoses. It is a very rare disorder that affects only one side of the body, usually the right. In addition to genodermatosis, equilateral malformations of limbs and abnormalities of internal organs occur. What is CHILD syndrome? The acronym CHILD stands for “Congenital Hemidysplasia with … CHILD Syndrome: Causes, Symptoms & Treatment
KGB syndrome , also known as Hermann-Pallister syndrome, is a very rare inherited disorder that affects all body systems. Characteristics of the genetic disorder include unusual facial features, skeletal abnormalities, and delayed development. What is KGB syndrome? The name KGB syndrome comes from the initial letters of the family names of the first patients with … KGB Syndrome: Causes, Symptoms & Treatment
Marked monoamine oxidase A deficiency is genetic and is often characterized by impulsive aggressiveness. This results in disruption of the breakdown of serotonin, epinephrine, norepinephrine, or dopamine. The gene encoding monoamine oxidase-A (MAO-A) is located on the X chromosome. What is monoamine oxidase-A deficiency? Monoamine oxidases represent enzymes responsible for the breakdown of monoamines. In … Monoamine Oxidase A Deficiency: Causes, Symptoms & Treatment
Elschnig syndrome is a very rare hereditary disorder with congenital malformations of the eyelids. However, the severity of symptoms often varies widely. Treatment is symptomatic and depends on the malformations that occur. What is Elschnig syndrome? Elschnig syndrome is mainly characterized by malpositions of the lower eyelids. In rarer cases, other symptoms also appear, such … Elschnig Syndrome: Causes, Symptoms & Treatment
Fucosidosis is one of the very rare storage diseases with a progressive and sometimes relapsing course due to a lack of activity of alpha-L-fucosidase, which is classified as one of the oligosaccharidoses or glycopreteinoses. A breakthrough treatment method is not yet in sight, which is why treatment to date has been with allogeneic bone marrow … Fucosidase: Causes, Symptoms & Treatment
