Overgrowth syndrome is a group of genetic disorders in which there is an abnormal increase in the size of the body or a body part that is often noted at birth. Examples of overgrowth syndromes include neurofibromatosis, Sotos syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Weaver syndrome, Proteus syndrome, Sturge-Weber syndrome, and fragile X syndrome. Many of these syndromes increase the risk of cancer.
Phakomatoses (or “neurocutaneous syndromes”) are disorders of central nervous system that additionally result in lesions on the skin and the retina.
These tissues have a common ectodermal origin. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.
A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments.
Somatoform disorder (also known as Briquet’s syndrome) is a mental disorder characterized by physical symptoms that mimic physical disease or injury for which there is no identifiable physical cause. Somatoform disorder is a condition in which the physical symptoms a person feels are due to mental factors. These symptoms can not be traced to a specific physical cause. In people who have Somatoform disorder, medical test results are either normal or don’t explain the person’s symptoms. People who have this disorder may undergo several medical evaluations and tests to be sure that they do not have an illness related to a physical cause or central lesion. Patients with this disorder often become very worried about their health because the doctors are unable to find a cause for their health problems. Their symptoms are similar to the symptoms of other illnesses and may last for several years.
A diagnosis of a Somatoform disorder implies that mental factors are a large contributor to the symptoms’ onset, severity and duration. Somatoform disorders are not the result of conscious malingering or factitious disorders.
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The term, which means “spot”, was introduced by Jan van der Hoeve in the 1920s, before the distinct genetic basis of each of these diseases was understood.