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In general, life expectancy for individuals with microcephaly is reduced, and the prognosis for normal brain function is poor. Occasional cases develop normal intelligence and grow normally (apart from persistently small head circumference). [2] [8] It is reported that in the United States, microcephaly occurs in 1 in 800-5,000 births. [3]
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 ...
Individuals with this condition typically show severe intellectual disability, motor delays, severe speech delay and difficulties, infancy-onset hypotonia affecting the trunk, progressive hypertonia affecting the distal limbs, severe progressive microcephaly, autistic-like symptoms, aggressive behavior towards others and/or oneself, sleep abnormalities, and mild facial dysmorphisms such as a ...
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.
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin.Symptoms vary among patients, but other characteristics include a soft, high-pitched voice, partial webbing of the fingers and toes, palate deformations, genital abnormalities, language difficulties, and an aversion to crowds. [2]
Galloway–Mowat syndrome is usually an autosomal recessive disorder, [1] which means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
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Onset of symptoms is normally within the first year of life with truncal ataxia and seizures. The head is small ( microcephaly ). Common facial abnormalities include: [ citation needed ]