CEDNIK syndrome is a congenital disease that is manifested by abnormalities of the skin as well as disorders of the nervous system. The patients with CEDNIK syndrome mainly suffer from keratoderma as well as hyperkeratosis. Thereby the cornification processes of the skin are impaired. On the nervous system, CEDNIK syndrome is particularly manifested by developmental … CEDNIK Syndrome: Causes, Symptoms & Treatment
Papillon-Lefèvre syndrome is a particularly rare form of ectodermal dysplasia. As part of the disease, there is severe keratinization on the skin. In addition, affected patients suffer from periodontitis with an unusually early onset. Papillon-Lefèvre syndrome is referred to by the abbreviation PLS in numerous cases. What is Papillon-Lefèvre syndrome? Basically, Papillon-Lefèvre syndrome is a … Papillon-Lefèvre Syndrome: Causes, Symptoms & Treatment
If the medical profession speaks of a urea cycle defect, it uses an encroachment that predominantly affects several metabolic diseases, which on the one hand have a genetic origin and on the other hand are responsible for a disturbed nitrogen excretion. If left untreated, the urea cycle defect leads to the death of the patient. … Urea Cycle Defect: Causes, Symptoms & Treatment
Adams-Oliver syndrome is a very rare condition. It is hereditary. The syndrome is characterized by congenital defects of the head and limbs and nervous system disorders. What is Adams-Oliver syndrome? Adams-Oliver syndrome is an inherited disorder. People with the disease suffer from abnormalities and defects in the skull skin as well as the extremities. Adams-Oliver … Adams-Oliver Syndrome: Causes, Symptoms & Treatment
Diamond-Blackfan syndrome is an anemic disorder, although the cause is still unclear. Diamond-Blackfan syndrome can be treated relatively well and sometimes even cured. However, preventive measures are not possible. What is Diamond-Blackfan syndrome? The medical profession refers to Diamond-Blackfan syndrome – also known as erythrogenesis imperfecta or chronic congenital hypoplastic anemia and Diamond-Blackfan anemia (DBA … Diamond-Blackfan Syndrome: Causes, Symptoms & Treatment
Familial hypercholesterolemia is an inherited disorder by which blood cholesterol levels become abnormally elevated. The result is severe disorders of the blood circulatory system. Treatment is by medication and is supported by a healthy lifestyle. What is familial hypercholesterolemia? Familial hypercholesterolemia is the genetic elevation of blood cholesterol levels. The prefix hyper- means “over” and … Familial Hypercholesterolemia: Causes, Symptoms & Treatment
Atelosteogenesis is a rare, incurable skeletal malformation caused by a genetic defect. Affected individuals usually die in the first few days after birth; a favorable course results in numerous physical malformations. What is atelosteogenesis? Atelosteogenesis is a so-called dysplasia, a congenital malformation of the skeleton. The term is composed of the ancient Greek words “atelos” … Atelosteogenesis: Causes, Symptoms & Treatment
Scheie’s disease is a very rare inherited disorder. Medical experts believe that Scheie’s disease is an attenuated course of mucopolysaccharidosis type I (also known as MPS I), a lysosomal storage disease. Scheie disease can be compared to Hurler disease, although Scheie disease has a much milder course. For example, the symptoms of Scheie’s disease are … Scheies Disease: Causes, Symptoms & Treatment
Bloom syndrome is a very rare, genetically inherited disorder. It is characterized by increased genetic instability. Patients are short in stature and more likely to develop cancer. Because of the increased vascular markings in the tumors, Bloom syndrome is also called telangiectatic syndrome. What is Bloom syndrome? Bloom syndrome belongs to the group of chromosome … Bloom Syndrome: Causes, Symptoms & Treatment
Lethal familial insomnia or Fatal familial insomnia – also called FFI – is an inherited disorder. FFI (from the English for “fatal familial insomnia“) belongs to the so-called prion diseases and is characterized by severe sleep disorders and insomnia. Fatal familial insomnia often occurs between the ages of 20 and 70. Although the disease is … Lethal Familial Insomnia: Causes, Symptoms & Treatment
Dyschondrosteosis Léri Weill is a disorder with genetic causes. Dyschondrosteosis Léri Weill is classified in the category of skeletal dysplasias. The typical characteristic of the disease is short stature, which is also disproportionate. The middle sections of the extremities are symmetrically shortened. At the same time, a so-called Madelung deformity occurs in the context of … Dyschondrosteosis Léri Weill: Causes, Symptoms & Treatment
Dubin-Johnson syndrome is an inherited disorder that primarily affects the liver. Symptoms include jaundice, an increased concentration of bilirubin in the blood, and abnormalities of the liver. Causative treatment is not possible, but in most cases it is not necessary. What is Dubin-Johnson syndrome? Dubin-Johnson syndrome belongs to the metabolic diseases, where it is classified … Dubin-Johnson Syndrome: Causes, Symptoms & Treatment
