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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Prader–Willi syndrome ( PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [ 2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [ 2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [ 2]
Angelman syndrome ( AS) is a genetic disorder that mainly affects the nervous system. [ 6 ] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. [ 6 ]
Causes and origins of Tourette syndrome have not been fully elucidated. Tourette syndrome (abbreviated as Tourette's or TS) is an inherited neurodevelopmental disorder that begins in childhood or adolescence, characterized by the presence of multiple motor tics and at least one phonic tic, which characteristically wax and wane.
Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
Alport syndrome. Alport syndrome is a genetic disorder [ 1] affecting around 1 in 5,000–10,000 children, [ 2] characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. [ 3] Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life.
Specialty. Medical genetics. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as " CHILD syndrome ") is a genetic disorder with onset at birth seen almost exclusively in females. [1] : 485 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline ...
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