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Diseases

Angelman Syndrome

Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanour. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on …

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Velo-cardio-facial syndrome

Velo-cardio-facial syndrome (VCFS) is a genetic condition that is related to DiGeorge syndrome and involves a similar chromosome abnormality as DiGeorge syndrome. Velo-cardio-facial syndrome is a genetic disorder with varying conditions present in each individual with the syndrome. However, conditions that are common to the syndrome include certain heart defects, …

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Williams syndrome

Williams syndrome (WS; also Williams-Beuren syndrome or WBS) is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7.[1] It is characterized by a distinctive, “elfin” facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with …

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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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Myelodysplastic syndroms

The myelodysplastic syndromes (MDS, formerly known as “preleukemia”) are a diverse collection of hematological conditions united by ineffective production (or dysplasia) of myeloid blood cells and risk of transformation to acute myelogenous leukemia (AML).[1] Anemia requiring chronic blood transfusion is frequently present. Astronomer Carl Sagan, writer Roald Dahl, jazz saxophonist …

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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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Microcephaly

Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person’s age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety …

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Landau-Kleffner syndrome

Landau-Kleffner syndrome (LKS) is a childhood disorder. A major feature of LKS is the gradual or sudden loss of the ability to understand and use spoken language. All children with LKS have abnormal electrical brain waves that can be documented by an electroencephalogram (EEG), a recording of the electric activity …

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Cri du chat syndrome

Cri du chat syndromeis a group of symptoms that result from missing a piece of chromosomechromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat. CausesCauses Cri du chat syndrome is rare. It happens when genetic information on chromosome 5 …

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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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