Rare Disease Insights

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Tag: medicine

Treacher Collins Syndrome (TCS) – 1 in 10,000-50,000 Individuals

Aug 10
Waardenburg Syndrome (WS) – One in 40,000 Births

Jul 20
Systemic Capillary Leak Syndrome (SCLS or Clarkson Syndrome) – Less Than 500 Cases Ever Reported

Jul 13
Alkaptonuria (AKU) – 1 in 250,000-1,000,000 Live Births in the United States

Jul 6
Oculopharyngeal Muscular Dystrophy (OCMD) – Less Than One in 100,000 People Affected

Jun 20
Charcot-Marie-Tooth Disease (CMT) –

Jun 5
Aquagenic Urticaria – Fewer Than 100 Cases Worldwide

May 24
Acquired Aplastic Anemia – 500-1,000 New Cases Annually

May 16
Moyamoya Disease – 1 Per 300,000 People

May 9
Moebius Syndrome – 1 Per 50,000 Live Births in the United States

May 1
Ewing Sarcoma – 2.93 Children Per 1,000,000 Annually

Apr 25
Cold Agglutinin Disease (CAD) – 1 Person Per Million Annually

Apr 18
Dandy-Walker Malformation (DWM) – 1 Per 25,000-35,000 Live Births

Apr 11
Friedreich’s Ataxia (FRDA) – 15,000 People Affected Worldwide

Apr 5
Metachromatic Leukodystrophy (MLD) – Between 1 in 40,000 and 1 in 160,000 People Affected

Mar 28
Fatal Familial Insomnia (FFI) – 1 to 2 People Per Million Annually

Mar 22
Rett Syndrome – 1/10,000 Girls Affected Before Age 12

Mar 13
Apert Syndrome – 1 in 65,000 Births

Mar 8
Guillain-Barré Syndrome (GBS) – 1 to 2 People Per 100,000 Annually

Feb 21
Eosinophilia-Myalgia Syndrome (EMS) – 5,000-10,000 Cases

Feb 15
Dextrocardia with Situs Inversus – 1 in 10,000 to 1 in 35,000 Live Births

Feb 1
Williams Syndrome – 1 in every 7,500 to 10,000 People Worldwide

Jan 25
Ichthyosis – Severe Cases Affecting 1 in 100,000

Jan 11