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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]
Microcephaly can be primary, where the brain fails to develop properly during pregnancy, or secondary, where the brain is normal sized at birth but fails to grow as the child ages. [2] Abnormalities will be observed progressively after birth whereby the child will display stunted growth and physical and cognitive development.
The human CASK gene was first described as a candidate locus for X-linked optic atrophy in 1998. [20] The first patient was described in literature in 2007 [ 21 ] and an association between a CASK gene mutation and MICPCH confirmed in 2008.
Salt and pepper developmental regression syndrome, also known as Amish infantile epileptic syndrome [4] or GM3 deficiency syndrome, [5] is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities.
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.
An extremely rare complication, it affects 1 in every 40,000 deliveries, and occurs during delivery or shortly after giving birth, when amniotic fluid enters a mother's bloodstream just before ...
A mom from Texas has shared how she forgot that she gave birth to her triplets after she was declared “clinically dead” for 45 minutes following her cesarean section.
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.