Health TopicsGenetic disorders and birth defects

Genetic disorders and birth defects

Find out everything you need to know about genetic disorders, including symptoms, treatment, causes, management and more.

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Must-know facts about mitochondrial disease
Learn about the surprising disease that may have afflicted Charles Darwin

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Treatment options for primary immunodeficiency (PI)
A look at the existing and emerging therapies used in the treatment of primary immunodeficiency (PI)...

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4 resources for people living with primary immunodeficiency
Organizations and online resources that provide information and support for people living with prima...

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What healthcare providers treat primary immunodeficiency?
A guide to the healthcare providers and specialists who diagnose and treat primary immunodeficiency ...

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5 answers about NF and plexiform neurofibromas
Learn about the large nerve tumors called plexiform neurofibromas (pNF) that affect some people with...

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What are the different types of NF?
Learn about the three types of neurofibromatosis—NF1, NF2, and schwannomatosis.

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NF glossary: terms to help understand neurofibromatosis
Key terms to help you better understand this rare genetic disorder.

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5 resources for people with spinal muscular atrophy
Use these links to learn more about spinal muscular atrophy (SMA), including patient education and s...

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Self-care for parents of children with neurofibromatosis
Tips and strategies for minimizing stress and feeling less overwhelmed.

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What is the treatment for spinal muscular atrophy?
Learn about the medications and therapies that can help slow the progression of spinal muscular atro...