47, XXX (Trisomy X) · 47, XXY (Klinefelter Syndrome) · 48, XXYY Syndrome · 5,10 – Methenyltetrahydrofolate Synthetase Deficiency · Aarskog Syndrome.
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Rare Diseases · Babesiosis · Botulism · Chagas Disease (American Trypanosomiasis) · CNS Whipple Disease · Dermatologic Manifestations of Necrotizing Fasciitis ...
What are the most common rare diseases? · Ehlers –Danlos Syndrome (EDS) · Sickle Cell · Cystic Fibrosis · Duchenne Muscular Dystrophy (DMD) · Haemophilia.
Other Rare Diseases and Disorders We Treat at UPMC Children's Hospital · Adrenoleukodystrophy · Bare Lymphocyte Syndrome (BLS) · Byler Disease · CANDLE Syndrome ...
Feb 29, 2024 · 4. Alkaptonuria. Frequency: one in one million people globally. Alkaptonuria, or “black urine disease”, is a very rare inherited disorder that ...
Jul 1, 2022 · Extremely rare diseases are sometimes referred to as ultra-rare with a prevalence of <1/50,000 (Hughes et al., 2005). Although the ultra-rare ...
Feb 15, 2023 · What are rare diseases? · RPI Deficiency. This is considered to be the rarest disease in the world. · Field's disease · Hutchinson-Gilford Progeria ...
Some are widely recognized by name, such as cystic fibrosis, while others are less known, such as cat eye syndrome. Most cancers (all but a few types) are rare.
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Feb 28, 2023 · The World Health Organization, on the other hand, defines a rare disease as one that strikes fewer than 65 per 100,000 people. A rare disease is ...
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Some of these patients with rare diseases have taught us more about common conditions such as osteoporosis, kidney stones, and viral infections. Building on the ...
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