Very Unusual Diseases

I really debated sharing this. I mean, honestly, I’m making fun of diseases!

There sure are a lot of them out there though. And some of have some really funny names too.

I should know. I suffer from a rare disease called Large Vessel Vasculitis. It’s an autoimmune order where your immune system attacks your own large blood vessels (like the aorta). It affects 1 out of every 100,000 people. 

And that’s been my entrée into the wild and wonderful world of wackily-named syndromes and disorders. While waiting for my diagnosis for my rather blandly-named disease, I had to contend with the possibility that I might have Giant Cell Arteritis, or Churg Strauss Syndrome, or Henoch-Schönlein Purpura, or Goodpasture Syndrome.

I actually got quite into the world of rare diseases. And this blog post is the result. 

Gallows humor, I guess.

So, what I’ve got here is 50 rare diseases with the most interesting names from this awesome list from NORD, the National Organization of Rare Disorders. Shall we get started?

1. African Iron Overload – like it says, abnormally elevated levels of iron in the body, first identified and more common in Africa; AKA Bantu Siderosis
2. Arterial Tortuosity Syndrome – like it says, the lengthening and twisting of arteries throughout the body
3. Blue Diaper Disease –  genetic disorder resulting in the incomplete breakdown of tryptophan in the intestines, causing bluish urine
4. Blue Rubber Bleb Nevus Syndrome – characterized by lesions on the skin or just under that are often dark blue; AKA Bean Syndrome
5. Bullous Pemphigoid – chronic autoimmune skin disorder featuring blisters, hives, and itching
6. Cat Eye Syndrome – chromosomal anomaly causing colobomas, gaps in the iris below the pupil that makes the eyes appear catlike
   
   
   
   
   
7. Complete DiGeorge Syndrome – the absence of a thymus at birth; contrasted with DiGeorge Syndrome, which means a merely underdeveloped one
8. Cri du Chat Syndrome – a chromosomal anomaly where newborns’ cries sound like cats’ meowing
9. Dandy Walker Malformation – a congenital defect affecting the cerebellum; named for two doctors who studied it extensively; AKA Luschka-Magendie Foramina Atresia
10. Duane Syndrome – a congenital eye movement disorder; AKA Duane Radial Ray Syndrome, Duane's Retraction Syndrome, Stilling-Turk-Duane Syndrome
11. Fatal Familial Insomnia – like it says, a genetic disorder that keeps sufferers from sleeping and which can even lead to death
12. Floating Harbor Syndrome – genetic condition with a number of different symptoms; named for the two hospitals where it was first discovered, Boston Floating Hospital and Harbor General Hospital in California
13. Fragile X Syndrome – a chromosomal anomaly where the X chromosome is damaged, resulting in many various symptoms
14. Geographic Tongue –  inflammation of the tongue with a map-like pattern (if you have a good imagination); AKA Wandering Rash of the Tongue
15. Goodpasture Syndrome – autoimmune disorder featuring inflammation of the kidneys and excessive bleeding into the lungs; named after Dr. Earnest Goodpasture, its discoverer
16. Grover’s Disease – characterized by temporary small red lesions, typically on the chest and back; AKA Transient Acantholytic Dermatosis
    
    
    
    
    
17. Hailey-Hailey Disease – genetic disorder featuring rashes and blisters on the neck, armpits, skin folds and genitals; AKA Benign Chronic Familial Pemphigus
18. Hairy Cell Disease – blood cancer characterized by thin, hair-like projections on B lymphocytes (a type of white blood cell); AKA Leukemic Reticuloendotheliosis
19. Hairy Tongue – lengthening and overgrowth of the bumps on your tongue, forming a brown or black coating
20. Harlequin Ichthyosis – genetic skin disorder where newborn is covered with plates of thick skin that crack and split; AKA Harlequin Fetus, Harlequin Baby Syndrome
21. Imperforate Anus – absence or abnormal location (vagina, bladder, etc.) of the anus
22. Jumping Frenchman of Maine – neurological disorder featuring an unusually extreme startle response; first seen in a community of French-Canadian lumberjacks
    
    
    
    
    
23. Kabuki Syndrome – characterized by distinctive facial features, suggesting the makeup of a Kabuki actor; hence AKA Kabuki Makeup Syndrome
24. Leprechaunism – an abnormal resistance to insulin, causing short stature and unusual facial characteristics, suggestive of a leprechaun 
25. Locked-In Syndrome – neurological disorder where the patient is completely paralyzed but conscious
26. Lymphocytic Infiltrate of Jessner – characterized by lesions on the skin caused by a buildup of white blood cells; AKA Jessner-Kanof Lymphocytic Infiltration
27. Maple Syrup Urine Disease – genetic disorder where urine and earwax smell like maple syrup; AKA Branched-Chain Ketoacid Dehydrogenase Deficiency
28. NORSE (New Onset Refractory Status Epilepticus) – continuous seizures that seemingly come from nowhere
29. Palmoplantar Pustulosis – like it says (if you know Latin, that is), characterized by blisters on the palms of the hand and feet; AKA PPP
30. Pentalogy of Cantrell – set of five birth defects that appear together, affecting the heart, lungs, bones & many other parts of the body; AKA Cantrell Deformity
31. Prader-Willi Syndrome – genetic disorder featuring an insatiable appetite; subject of actress Mayim Bialik’s PhD dissertation; AKA Willi-Prader syndrome, Prader-Labhart-Willi syndrome, Hypogonadism Hypotonia Hypomentia Obesity (HHHO)
    
    
    
    
    
32. Prune Belly Syndrome – congenital absence of the abdominal muscles, resulting in a severely wrinkled abdomen; AKA Eagle-Barrett Syndrome
33. Pseudo Hurler Polydystrophy – genetic disorder resulting in a build-up of toxic materials in the body’s cells due to enzyme deficiencies; a milder form of Hurler Syndrome
34. Pure Autonomic Failure – abnormal accumulation of a certain protein in autonomic nerves, resulting in low blood pressure upon standing up; AKA Bradbury-Eggleston syndrome
35. Q Fever – infection common among farmworkers and others who work with animals  
36. Schnitzler Syndrome – autoimmune disorder featuring a red rash; not to be confused with Schindler Disease, Schinzel Syndrome, or …
37. Shprintzen Goldberg Syndrome – `a disease of connective tissue, with symptoms resembling Marfan Syndrome (which Lincoln may have had); AKA Marfanoid-Craniosynostosis Syndrome
    
    
    
    
    
38. Sprengel Deformity – congenital condition where one shoulder blade is higher than the other; AKA Scapula Elevata
39. Stiff Person Syndrome – characterized by progressive muscle stiffness and spasms
40. Sweet Syndrome – a buildup of neutrophils (white blood cells) in the skin, resulting in fever and a rash; identified by a Dr. Robert Sweet
41. Tarsal Tunnel Syndrome – the foot’s version of carpal tunnel syndrome
42. Tethered Cord Syndrome – like it says, a set of symptoms caused by the spinal cord’s becoming attached to the spine, limiting its movement & causing a number of different symptoms
43. Tetralogy of Fallot – set of four heart defects that appear together; characterized by a blue tint to the skin
44. Timothy Syndrome – genetic disorder primarily affecting the heart; often results in webbed fingers and toes; named after Dr. Katherine Timothy, who first described it
45. Tooth and Nail Syndrome – genetic condition causing absence/deformation of teeth and small/undeveloped finger and toe nails
46. Tropical Sprue – tropical disease causing the intestines to not absorb enough nutrients
47. Usher Syndrome – genetic disorder causing deafness and blindness; named for Dr. Charles Usher, who studied it
    
    
    
    
    
48. Visual Snow Syndrome – neurological condition making one’s visual field resemble “snow” on an old TV; AKA Persistent Positive Visual Phenomena
49. Wandering Spleen –  weakness or absence of the ligaments holding the spleen in; AKA Displaced, Drifting, and Floating Spleen
50. Whipple Disease – very similar to Tropical Sprue (and also know as Secondary Non-Tropical Sprue); first described by Nobel Prize winner Dr. George Hoyt Whipple