Pfeiffer syndrome is an autosomal dominant inherited disorder. This occurs very rarely and has abnormalities in the bone formation of the face and skull. Pfeiffer syndrome is caused by a mutation in certain proteins responsible for the maturation of bone cells. What is Pfeiffer syndrome? Pfeiffer syndrome is a rare inherited disorder that is one … Pfeiffer Syndrome: Causes, Symptoms & Treatment
Trisomy 18, or Edwards syndrome, is a condition caused by a genetic defect in chromosome No.18. Instead of normally being laid out as a pair, the chromosome occurs in triplicate in the condition. No treatment is yet available, and children usually die only a few days or weeks after birth. What is trisomy 18? Trisomy … Trisomy 18 (Edwards Syndrome): Causes, Symptoms & Treatment
From intelligence reduction are statistically affected about three percent of the population. Different degrees of severity are distinguished from the so-called “borderline intelligence” to “most severe intelligence reduction”. This is an impairment of mental abilities. What is intelligence reduction? Defined intelligence reduction is an incomplete or stagnant development of mental abilities that affect the level … Intelligence Impairment: Causes, Symptoms & Treatment
Cardio-facio-cutaneous syndrome is a very rare genetic disorder. It is characterized by the presence of multiple physical and mental impairments. The disease can only be treated symptomatically. What is cardio-facio-cutaneous syndrome? Cardio-facio-cutaneous syndrome is characterized by multiple physical malformations and mental developmental delays. Not much is known about this disease. Sporadic cases occur from time … Cardio-facio-cutaneous Syndrome: Causes, Symptoms & Treatment
Craniomandibular dysfunction is malfunction of the jaw. These become noticeable through different symptoms. What is craniomandibular dysfunction? Craniomandibular dysfunction is also known as craniomandibular dysfunction, CMD or functional pain syndrome. This generic term refers to functional, structural or psychological dysregulation of the temporomandibular joint. The dysfunctions sometimes also cause pain. The complaints are caused by … Craniomandibular Dysfunction: Causes, Symptoms & Treatment
In psychoanalysis, according to Sigmund Freud, the anal phase describes a stage of early child development. The anal phase follows the oral phase and begins with the second year of life. In the anal phase, the excretory functions of the body as well as how to deal with them are the focus of the child’s … Anal Phase: Function, Tasks, Role & Diseases
In 1966, medical doctor Prof. Dr. Andreas Rett discovered a rare and previously unknown disorder that affects almost exclusively girls. The disease, which causes severe mental and physical disabilities, was named Rett syndrome after him. What is Rett syndrome? Rett syndrome is a genetic defect on the X chromosome. The disease can take very different … Rett Syndrome: Causes, Symptoms & Treatment
Pelizaeus-Merzbacher disease is a hereditary leukodystrophy with degeneration of the nerve substance. Affected individuals suffer from a mutation-related disorder of myelination that results primarily in motor and intellectual deficits. Therapy of the disease has been limited to supportive measures of physiotherapy and psychotherapy. What is Pelizaeus-Merzbacher disease? Leukodystrophies are genetic metabolic diseases in which the … Pelizaeus-Merzbacher Disease: Causes, Symptoms & Treatment
Stress that comes to the fore in certain moderation definitely does no harm. But great stress during pregnancy and strong maternal anxiety may well have a negative impact on the child and its development. A low birth weight or even a miscarriage are possible. Childhood late effects such as asthma and depression are also sometimes … Stress in Pregnancy
By arachnoid cyst, physicians mean a collection of cerebrospinal fluid surrounded by the arachnoid (spider web-like meninges). The human brain has three layers of meninges, the middle layer of which consists of thin and white collagen fibers. What is an arachnoid cyst? The term arachnoid cyst refers to a cavity in the spinal meninges (arachnoid) … Arachnoid Cyst: Causes, Symptoms & Treatment
Biotinidase deficiency is a very rare inherited metabolic disorder. It occurs due to a genetic defect in the enzyme biotinidase. About one in 80,000 children is born with such an enzyme disorder. Newborn screening helps to make the diagnosis. What is biotinidase deficiency? Biotinidase deficiency, or BTD for short, belongs to the group of rare … Biotinidase Deficiency: Causes, Symptoms & Treatment
