mutation

Karsch-Neugebauer Syndrome: Causes, Symptoms & Treatment

Symptomatic of Karsch-Neugebauer syndrome are primarily deformities of the hands and feet. Further, uncontrollable eye tremor and severe strabismus are typical. All therapeutic options are primarily based on the symptoms and treatment begins immediately after birth. What is Karsch-Neugebauer syndrome? Karsch-Neugebauer syndrome is a very rare inherited disorder. It was first described by an ophthalmologist … Karsch-Neugebauer Syndrome: Causes, Symptoms & Treatment

Acrorenal Syndrome: Causes, Symptoms & Treatment

Acrorenal syndrome is a group of disorders associated with malformations of the kidneys and limbs. Acrorenal syndrome exists in affected individuals from birth and is characterized by an autosomal recessive mode of inheritance. Acrorenal syndrome is relatively rare. What is acrorenal syndrome? Acrorenal syndrome is a hereditary condition that results in malformations of the limbs … Acrorenal Syndrome: Causes, Symptoms & Treatment

Osteoonychodysplasia: Causes, Symptoms & Treatment

Osteoonychodysplasia is a mutation-related malformation syndrome with predominant involvement of the limbs. In addition to skeletal abnormalities, involvement of the kidneys and eyes is often present. Symptomatic treatment is aimed primarily at delaying terminal renal failure. What is osteoonychodysplasia? Malformation syndromes are characterized by dysplasia of various structures of the anatomy. In medicine, dysplasia is … Osteoonychodysplasia: Causes, Symptoms & Treatment

Complete Androgen Resistance: Causes, Symptoms & Treatment

Complete androgen resistance is what physicians refer to as a mutation that produces female phenotypes from male carotypes. Patients have a blind vagina and their testes are affected by testicular dystopias. The testes are removed before age 20 to reduce the risk of degeneration. What is complete androgen resistance? Complete androgen resistance is also called … Complete Androgen Resistance: Causes, Symptoms & Treatment

Methylmalonic Aciduria: Causes, Symptoms & Treatment

Methylmalonic aciduria is a disease of the metabolism. The disease may also be referred to synonymously as methylmalonacidemia or by the abbreviation MMA. It is generally exceedingly rare, so only a relatively small number of people have the disorder. The disorder is usually included in the category of organoacidopathies. Methylmalonic aciduria is inherited primarily in … Methylmalonic Aciduria: Causes, Symptoms & Treatment

Dyslexia: Causes, Symptoms & Treatment

Dyslexia is a disorder in which affected patients have difficulty reading and understanding information they read. Accordingly, dyslexia primarily represents a reading disorder. On the other hand, the affected persons do not show any disorders of the sense of sight or hearing. In some cases, dyslexia occurs together with dyslexia. What is dyslexia? Basically, in … Dyslexia: Causes, Symptoms & Treatment

Chondroblast: Structure, Function & Diseases

Chondroblasts are precursor cells of chondrocytes and form the extracellular matrix of cartilage tissue. During the process, they find themselves isolated from their neighboring cells in a lacuna and at that moment become the cartilage cells chondrocytes. The best known disease related to cartilage tissue is degenerative osteoarthritis. What is a chondroblast? In Greek, “chondros” … Chondroblast: Structure, Function & Diseases

Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment

Chondrodyplasia punctata of the rhizomelic type is one of the congenital malformations. The disorder is characterized by a striking short stature. The patient’s life expectancy is severely shortened in this disease. What is chondrodyplasia punctata of the rhizomelic type? Chondrodyplasia punctata syndromes are a group of different diseases. All subtypes are genetic diseases with characteristic … Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment

Beta-secretase: Function & Diseases

Beta-secretase belongs to the protease family. It is involved in the formation of beta-amyloid, which plays important roles in information transmission in the brain. At the same time, beta-secretase and beta-amyloid play important roles in the development of Alzheimer’s disease. What is beta-secretase? Beta-secretase belongs to the group of proteases that break down proteins at … Beta-secretase: Function & Diseases

Desbuquois Syndrome: Causes, Symptoms & Treatment

Desbuquois syndrome is a rare and congenital osteochondrodysplasia. The leading symptom is severe short stature with spinal curvature and shortened extremities. In addition to physiotherapeutic measures, surgical correction procedures are primarily used for treatment. What is Desbuquois syndrome? Osteochondrodysplasias are the disease group of skeletal dysplasias and cartilage dysplasias. These tissue defects include Desbuquois syndrome, … Desbuquois Syndrome: Causes, Symptoms & Treatment