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Microcephaly generally is due to the diminished size of the largest part of the human brain, the cerebral cortex, and the condition can arise during embryonic and fetal development due to insufficient neural stem cell proliferation, impaired or premature neurogenesis, the death of neural stem cells or neurons, or a combination of these factors ...
Treatment anti-epileptics Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM ) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein.
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 ...
Treatment Immunoglobulin replacement, HSCT [ 1 ] Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly , due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner [ 2 ] [ 1 ] Management for this condition is antiviral prophylaxis and antibiotic treatment.
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 ...
Achalasia microcephaly; Chest x-ray of an individual with achalasia. The arrows point to the areas of extreme esophageal dilation. Symptoms: Manifestation of achalasia: regurgitation, vomiting and dysphagia, alongside diagnosis of microcephaly: abnormally small head size below the third percentile as well as mild to moderate mental retardation.
Causes defects of genes on chromosome 3 and 18. 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.
Human T-lymphotropic virus [9] Syphilis [10] Zika fever, caused by Zika virus, can cause microcephaly and other brain defects in the child. [11] COVID-19 in pregnancy is associated with an increased risk of stillbirth with an odds ratio of approximately 2. [12] Hepatitis B may also be classified as a vertically transmitted infection.