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Tag Archives: genetic

Incontinentia Pigmenti

Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch-Sulzberger disease[1]:548, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus. The skin lesions evolve through characteristic stages: *blistering (from birth to about four months of age), *a wart-like rash …

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Tay-Sachs disease

Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and result ultimately …

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LISSENCEPHALY

Lissencephaly, which literally means smooth brain, is a rare brain formation disorder caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds (gyri) and grooves (sulci).[1] It is a form of cephalic disorder. Terms such as ‘agyria’ (no …

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