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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]
Microcephaly may be present at birth or it may develop in the first few years of life. [3] Brain development is often affected; people with this disorder often have an intellectual disability , poor motor function, poor speech, abnormal facial features, seizures and dwarfism .
The term "fursona" is a portmanteau of the words "furry" and "persona". [1] The term was first used in 1997. [2] According to Fred Patten, it was common for attendants to use their real names or nicknames at ConFurence (world's first furry convention) in 1989.
Holoprosencephaly is estimated to occur in approximately 1 in every 250 conceptions [1] and most cases are not compatible with life and result in fetal death in utero due to deformities to the skull and brain. [2] However, holoprosencephaly is still estimated to occur in approximately 1 in every 8,000 live births. [3]
Those affected have a nearly normal life expectancy. [6] AS affects 1 in 12,000 to 20,000 people. [6] Males and females are affected with equal frequency. [7] It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965. [7] [10] An older term, happy puppet syndrome, is generally considered pejorative. [11]
FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. [ 3 ]
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: M acrosomia (excessive birth weight), O besity , M acrocephaly (excessive head size ...
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. [1] It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. [2]