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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]
It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein which maps to chromosome 3q22.1–q24. This gene is central in the cell's DNA damage response and repair mechanism.
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 ...
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]
Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry ...
New research from the American Cancer Society on Thursday estimates nearly half of adult cancer deaths in the U.S. could be prevented by making lifestyle changes.
Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly. [1] Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound intellectual disability. Familial occurrence of the condition is very rare but it has been reported in a few families.
Two of the present attending doctors knelt down as they delivered a long-awaited diagnosis, the answer to all the troubling symptoms that plagued baby Violette since she was born in mid-July.