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Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular ...
Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...
Neurofibromatosis type I is the most common of the three types and is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation.
1 in 40,000 to 42,000 births, females more affected than males. Klippel–Feil syndrome ( KFS ), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck ( cervical vertebrae ). [ 1]: 578 It can result in a limited ability to move the neck and ...
Neurofibroma. A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors ( solitary neurofibroma, solitary nerve sheath tumor[ 1] or sporadic neurofibroma[ 1] ), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant ...
Diagnosis is visual with measurement of spot size. The number of spots can have clinical significance for diagnosis of associated disorders such as neurofibromatosis type I. Six or more spots of at least 5 mm in diameter in pre-pubertal children and at least 15 mm in post-pubertal individuals is one of the major diagnostic criteria for NF1. [10]
Genetic disorder. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...
Caudal regression syndrome. Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum ), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine —the caudal partition of the spine—is abnormal. [ 1] It occurs at a rate of approximately one per 60,000 live births.