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Lissencephaly (/ ˌ l ɪ s. ɛ n ˈ s ɛ f. ə l. i /, meaning 'smooth brain') [1] is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. [2] It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds and grooves . [3]
[5]: 62 Babies with Down syndrome and other chromosomal defects that cause congenital heart defects may also be at risk of teratology of Fallot. [11] Teratology of fallot is typically treated by open heart surgery in the first year of life. [8] The timing of surgery depends on the baby's symptoms and size. [8]
Lissencephaly is present in 1 of 85,470 births and the life span of those affected is short as only a few survive past the age of 20. [1] Pachygyria is a condition identified by a type of cortical genetic malformation.
The most striking sign of Timothy syndrome type 1 is the co-occurrence of both syndactyly (about 0.03% of births) and long QT syndrome (1% per year) in a single patient. . Other common symptoms include cardiac arrhythmia (94%), heart malformations (59%), and autism or an autism spectrum disorder (80% who survive long enough for evaluati
Brain imaging and genetic sequencing greatly increased the information known about polymicrogyria within the past decade. [18] Understanding about development, classification and localization of the disorder have greatly improved. [18] For instance, localization of specific cortex regions affected by the disease was determined.
As there is no known cure, life expectancy of people with progeria is 15 years, as of 2024. [59] At least 90 percent of patients die from complications of atherosclerosis, such as heart attack or stroke. [60] Mental development is not adversely affected; in fact, intelligence tends to be average to above average. [61]
Congenital HIV encephalopathy [34] Meningitis [35] Encephalitis [36] Toxins Chronic kidney failure [37] Deprivation Hypothyroidism [38] Anemia [39] Congenital heart disease [40] Malnutrition [41] Genetic mutations cause most cases of microcephaly. [3] Relationships have been found between autism, duplications of genes and macrocephaly on one side.
Hydranencephaly is an extreme form of porencephaly, which is characterized by a cyst or cavity in the cerebral hemispheres. [citation needed]Although the exact cause of hydranencephaly remains undetermined in most cases, the most likely general cause is by vascular insult, such as stroke, injury, intrauterine infections, or traumatic disorders after the first trimester of pregnancy.
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