Acrogeria is also known as Gottron syndrome and is characterized by a complex of predominantly dermal symptoms including atrophy and telangiectasia. The disease is based on a mutation in gene COL3A1, which interferes with the biosynthesis of type III collagen. Therapy to date has been purely symptomatic. What is acrogeria? The disease is apparently one … Acrogeria: Causes, Symptoms & Treatment
Cowden syndrome is an autosomal-dominant inherited disorder associated with a tendency to form tumors and is due to a mutation in the PTEN gene. Although the neoplasms are usually benign, the disease nevertheless increases the risk of cancer in patients. Treatment is purely symptomatic and is limited to regular checkups and tumor resections. What is … Cowden Syndrome: Causes, Symptoms & Treatment
Proteus syndrome is characterized by genetically determined giant stature with vascular malformations and tumor risk. The cause is thought to be a mutation in the genetic material, although this has not yet been determined. Because there is no curative therapeutic option, patients have been treated primarily in a supportive and symptomatic manner. What is Proteus … Proteus Syndrome: Causes, Symptoms & Treatment
Photoreceptors are light-specialized sensory cells on the human retina. They absorb various electromagnetic light waves and convert these stimuli into bioelectrical excitation. In hereditary diseases such as retinitis pigmentosa or cone-rod dystrophy, the photoreceptors perish bit by bit until blindness occurs. What are photoreceptors? Photoreceptors are light-sensitive sensory cells that are specialized for the visual … Photoreceptors: Structure, Function & Diseases
Waardenburg syndrome is a congenital condition that medical science classifies under leucism and divides into four different types. Typical signs include deafness, malformations, and pigmentary abnormalities. Because Waardenburg syndrome is a genetic disorder, it is not causally treatable. What is Waardenburg syndrome? Waardenburg syndrome is a type of leucism that lay people often confuse with … Waardenburg Syndrome: Causes, Symptoms & Treatment
Cryopyrin-associated periodic syndrome is the name given to three autoinflammatory diseases that result from the same mutation. The diseases are among the periodic fever syndromes and progress in episodes. To date, all three syndromes can only be treated symptomatically and with medication. What is cryopyrin-associated periodic syndrome? In autoimmune diseases, patients’ immune systems turn against … Cryopyrin-associated Periodic Syndrome: Causes, Symptoms & Treatment
Short rib polydactyly syndrome is a collective term for a variety of diverse osteochondrodysplasias that are present in affected individuals at birth. Thus, the short rib polydactyly syndrome is a congenital disease with a genetic background. Typical for the short rib polydactyly syndrome are a shortening of the ribs as well as a hypoplasia of … Short Rib Polydactyly Syndrome: Causes, Symptoms & Treatment
Multiple cartilaginous exostoses are multiple and hereditary exostoses. An autosomal dominant inherited mutation underlies the benign bone tumors. Treatment consists largely of surgical ablation of the tumors. What are multiple cartilaginous exostoses? Exostoses involve a demarcated neoplasm of compact bone substance that is directed outward. Exostoses are hyperostoses, or hyperplasias, of bone tissue characterized by … Multiple Cartilaginous Exostoses: Causes, Symptoms & Treatment
Hypotrichosis with juvenile macular dystrophy is an inherited condition that is present from birth. The condition is usually referred to by the abbreviation HJMD. Hypotrichosis with juvenile macular dystrophy is relatively rare. Its main symptoms are a weak hair growth (medical term hypotrichosis), which is already noticeable in young children. In addition, there is a … Hypotrichosis with Juvenile Macular Dystrophy: Causes, Symptoms & Treatment
McArdle’s disease is an energy utilization disorder with a genetic cause. Affected individuals suffer from dark urine, muscle weakness, cramps, and skeletal muscle stiffness. To date, McArdle’s disease is incurable and is treated only symptomatically with dietary and physical therapies. What is McArdle disease? McArdle disease is also known as McArdle myopathy, McArdle disease, or … McArdles Disease: Causes, Symptoms & Treatment
Morquio’s disease is a very rare metabolic disorder caused by an enzyme defect. In this disorder, the breakdown of glycosaminoglycans is impaired, causing damage to the affected tissue. What is Morquio’s disease? Morquio’s disease was first described by pediatrician Luis Morquio in 1929. It is a congenital metabolic disorder caused by a defective protein. Depending … Morquios Disease: Causes, Symptoms & Treatment
Pearson syndrome is a very rare disease with genetic causes. The disease is also known as Pearson’s disease among some medical professionals. The hereditary disease belongs to the so-called mitochondriopathies. Pearson’s syndrome is characterized by multisystemic complaints. The disease is typically characterized by deletion of mitochondrial DNA. What is Pearson syndrome? Pearson syndrome represents a … Pearsons Disease: Causes, Symptoms & Treatment
