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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Porphyria: Coping with the Stress of a Chronic Condition
Why identifying and reducing stress is essential to the long-term management of porphyria.

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Learn How to Manage Acute Porphyria and Pain
Understanding why acute forms of porphyria cause pain, including chronic pain.

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How Porphyria Can Impact Sleep (And What to Do About It)
The relationship between porphyria and sleep, with strategies that might help if you are struggling ...

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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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Self-Care for Parents of Children with Neurofibromatosis
Tips and strategies for minimizing stress and feeling less overwhelmed.

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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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What Are the Different Types of NF?
Learn about the three types of neurofibromatosis—NF1, NF2, and schwannomatosis.

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5 Resources for NF Patients and Parents
Links for finding specialists, patient education, family retreats, and summer camps for kids with NF...

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Coping with the Emotional Impact of SMA
How to find healthy ways to cope with the mental and emotional challenges of living with spinal musc...

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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...