A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. Genetic disorders can be passed on to family members who inherit the genetic abnormality and a small number of rare disorders are caused by a mistake in a single gene. Read more on getting a diagnosis and finding treatment for your child.
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6.
Neurofibromatosis
About Neurofibromatosis Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body,...
Source: The Nemours Foundation -
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Spina Bifida
Definition Spina Bifida means cleft spine, which is an incomplete closure in the spinal column. In general, the three...
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Rare Syndromes and Disorders
Info in English on Rare Disorders Looking for information on a rare disorder? Contact any or all of the...
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Hereditary Hemochromatosis
Hereditary Hemochromatosis Hereditary hemochromatosis is a genetic disease that causes the body to absorb and store...
Source: The Nemours Foundation -
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Dwarfism
There's been a lot of discussion over the years about the proper way to refer to someone with dwarfism. Many people who...
Source: The Nemours Foundation
