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Microcephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head" [2]) is a medical condition involving a smaller-than-normal head. [3] Microcephaly may be present at birth or it may develop in the first few years of life. [3]
Causes defects of genes on chromosome 3 and 18. Seckel syndrome , or microcephalic primordial dwarfism (also known as bird-headed dwarfism , Harper's syndrome , Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [ 1 ] ) is an extremely rare congenital nanosomic disorder.
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein.
Loss of function in AKT can cause microcephaly in humans while inactivation of the pathway can cause hemimegalencephaly. [4] There are also several cancers that have been shown to be linked with mutations in the AKT pathway, including melanoma and lung cancer. [4] [16] [17]
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities.
A cancer syndrome or family cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predisposes the affected individuals to the development of cancers and may also cause the early onset of these cancers. Although cancer syndromes exhibit an increased risk of cancer, the risk varies.
Conclusive studies have determined that high exposure to PFOA is correlated to illnesses including kidney cancer, testicular cancer and ulcerative colitis, among other serious ailments.
The Israeli Health Ministry describes the condition manifestation as "characterized by smaller than average head circumference (microcephaly) as early as the embryonic stage, intrauterine growth restriction (IUGR) as well as postnatal growth restriction (dwarfism).