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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 ]
Certain mutations in MCPH1, when homozygous, cause primary microcephaly—a severely diminished brain. [ 5 ] [ 6 ] [ 7 ] Hence, it has been assumed that variants have a role in brain development. [ 8 ] [ 9 ] However, in normal individuals no effect on mental ability or behavior has yet been demonstrated in either this or another similarly ...
Consequently, achalasia microcephaly, which has a familial predisposition, is an extremely rare syndrome. Current cases of achalasia microcephaly have only implicated children in its pathogenesis and there are only five, separate, known cases as of 2017. These cases involve a total of nine children, where each case refers to individual affected ...
In general practice, the term is used to describe the children with three or more cranial sutures closed. [16] Pansynostosis can present in several ways. The appearance can be the same as that seen with primary microcephaly: a markedly small head, but with normal proportions. [17]
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features.
The symptoms of Filippi Syndrome can be congenital (apparent as an infant). [1] The occurrence and severity of such symptoms are variable across affected individuals. [1] [2] The progression of symptoms over one's lifetime has not been thoroughly studied due to the small number of people with Filippi Syndrome globally.
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms ...
The combination of lissencephaly with severe congenital microcephaly is designated as microlissencephaly only when the cortex is abnormally thick. If such combination exists with a normal cortical thickness (2.5 to 3 mm [ 4 ] ), it is known as " microcephaly with simplified gyral pattern " (MSGP). [ 5 ]