List of Rare and Orphan Diseases By Diseases and Medications Info [13 more lists]

Exhaustive list of rare and orphan diseases. Orphan diseases are rare diseases that are not widely present in the population. Rare diseases are cost prohibitive to treat as medicines and procedures are expensive to create and not enough people are affected to cover the cost of production. Some of these may not even have mature treatments to combat. For some more obscure diseases check out the enteritis symptoms, the sacroiliitis symptoms and the cerebral edema symptoms.

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Rank Name Symptoms Treatments Risks Parent Disease

1

Apert syndrome

Genetic disorder
2

Acrodermatitis
3

Addison's disease

Autoimmune Disease, Endocrine diseases
4

Adie syndrome
5

Alagille syndrome
6

Amylose
7

Amyotrophic lateral sclerosis

Dysphagia, Weight loss, Dysarthria, Muscle weakness, Spasticity, Fasciculation, Muscle atrophy, Muscle Spasms, Slurred Speech, Monomelic amyotrophy, Hyperreflexia More

Physical therapy, Occupational therapy, Speech therapy, Cannabis, Riluzole, Mechanical ventilation, Transcranial magnetic stimulation, Baclofen, Tizanidine More

Male, Old age, Exposure to chemicals, Family history of Amyotrophic lateral sclerosis More

Nervous system disease, Motor neuron disease
8

Angelman syndrome

Seizure, Happy demeanour, Mental retardation, Developmental disability, Short attention span, Balance disorder, Sleep disorder, Speech disorder More

Physical therapy, Speech therapy, Cognitive behavioral therapy, Anticonvulsant More

Family history of Angelman syndrome

Nervous system disease, Genetic disorder
9

Prinzmetal's angina

Angina Pectoris
10

Angiolymphoid Hyperplasia with Eosinophilia
11

Arnold-Chiari malformation

Nervous system disease
12

Chronic Childhood Arthritis

Swelling, Pyrexia, Stiffness, Skin Eruptions, Lymphadenopathy, Arthralgia, Inflammation, Eye inflammation More

Non-steroidal anti-inflammatory drug, Celecoxib, Corticosteroid, Disease-modifying antirheumatic drug More

Family History of Autoimmune disorders

Musculoskeletal disorders, Arthritis
13

Asperger syndrome

Mental illness, Autistic Spectrum Disorders, Pervasive developmental disorder More
14

Bardet-Biedl syndrome
15

Barrett's esophagus

Dysphagia, Chest pain, Hematemesis, Black tarry stool, Heartburn

Non-steroidal anti-inflammatory drug, Nissen fundoplication, Aspirin, Photodynamic therapy, Radiofrequency ablation, Esophagectomy More

Male, Gastroesophageal reflux disease, Old age, White, Hispanic

Gastrointestinal Disorders
16

Beckwith-Wiedemann syndrome
17

Behçet's disease

Inflammatory bowel disease
18

Bloom syndrome

Genetic disorder
19

Bowen's disease

Cancer, Skin Disorder
20

Klumpke paralysis
21

Brown-Sequard Syndrome
22

Burkitt's lymphoma

Infectious disease, Cancer, Blood disorder, Lymphosarcoma and reticulosarcoma and other specified malignant tumors of lymphatic tissue More
23

Carcinoma 256, Walker
24

Caroli Disease
25

Chagas disease

Infectious disease
26

Charcot-Marie-Tooth disease

Scoliosis, Gastrointestinal Disorders, Gait abnormality, Muscle atrophy, Stork leg, Malformed hip sockets, Tremor, Hammer toe, Foot drop, Vocal cords atrophy More

Family History of Charcot-Marie-Tooth disease

Nervous system disease, Genetic disorder, Hereditary and idiopathic peripheral neuropathy, Neurological disorder More
27

Chediak-Higashi Syndrome
28

Chiari-Frommel Syndrome
29

Chondrodysplasia punctata
30

Choreatic Disorders
31

Churg-Strauss syndrome
32

Ogilvie syndrome
33

Hereditary nonpolyposis colorectal cancer

Cancer, Genetic disorder
34

Craniofacial Dysostosis
35

Creutzfeldt-Jakob disease

Central Nervous System Diseases, Slow virus infections and prion diseases of central nervous system More
36

Crohn's disease

Fatigue, Stroke, Myopathy, Pyrexia, Arthritis, Diarrhea, Hematochezia, Peripheral neuropathy, Headache, Constipation, Uveitis, Seizure, Abdominal pain, Failure to thrive, Pyoderma gangrenosum, Autoimmune hemolytic anemia, Dysphagia, Skin ulcer, Skin Eruptions, Anorexia, Nausea, Scleritis, Weight loss, Gingivitis, Arthralgia, Flatulence, Depression, Bloating, Vomiting, Erythema nodosum, Unintentional Weight Loss, Enthesitis, Anal fissure More

Surgery, Dietary fiber, Sulfasalazine, Corticosteroid, Vitamin B Complex, Mesalazine, Diet high in omega-3-fatty acids More

Non-steroidal anti-inflammatory drug, Caucasian race, White, Tobacco smoking, Isotretinoin, Family history of Crohn's disease More

Gastrointestinal Disorders, Inflammatory bowel disease
37

Cushing's syndrome

Polydipsia, Polyuria, Fatigue, Lipodystrophy, Hypertension, Erectile dysfunction, Osteoporosis, Hyperglycemia, Moon face, Amenorrhoea, Headache, Kidney stone, Psychosis, Anxiety, Weight gain, Glucose Intolerance, Insomnia, Central obesity, Acne vulgaris, Euphoria, Hirsutism, Muscle weakness, Depression, Irritability, Hyperhidrosis, Hypokalemia, Muscle atrophy, Bone Loss, Telangiectasia, Striae, Infertility, Flushing More

Surgery, Ketoconazole, Adrenalectomy, Radiation therapy, Aminoglutethimide, Mitotane, Metyrapone, Prednisolone More

Female, Prolonged use of corticosteroid, Multiple endocrine neoplasia type 1 More

Endocrine diseases, Adrenal gland disease
38

Dandy-Walker syndrome

Central Nervous System Diseases
39

Cornelia de Lange syndrome
40

Binswanger's disease

Cardiovascular disease, Nervous system disease, Mental illness
41

Dermatitis herpetiformis

Skin Disorder, Eczema, Bullous dermatoses
42

22q11.2 deletion syndrome

Renal failure, Congenital heart disease, Hypocalcaemia, Growth hormone deficiency, Autoimmune Disease, Seizure, Hearing impairment, Anorexia, Persistent truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Tetany, Hypertelorism, Hypoparathyroidism, Interrupted aortic arch, Velopharyngeal inadequacy, Learning disability More

Family History of 22q11.2 deletion syndrome

Genetic disorder
43

Balo concentric sclerosis
44

Duane syndrome
45

Dupuytren's contracture

Lump in the palm, Thick skin, Bent Finger

Corticosteroid, Fasciotomy, Needle aponeurotomy, Partial fasciectomy, Complete fasciectomy More

Male, Old age, Diabetes mellitus, Alcoholism, Tobacco smoking, Family History of Dupuytren's Contracture, Personal History of Liver Cirrhosis More

Soft tissue disorder, Disorders of muscle, ligament, and fascia, Musculoskeletal Disease More
46

Familial dysautonomia

Genetic disorder
47

Ebstein's anomaly

Fatigue, Cardiac arrhythmia, Dyspnea, Palpitation, Edema, Cyanosis

Heart transplantation, Propafenone, Amiodarone, Procainamide, Flecainide, Dofetilide, Ibutilide More

Wolff-Parkinson-White syndrome, Lithium pharmacology

Congenital heart disease, Congenital disorder, Congenital heart defect
48

Ehlers-Danlos syndrome

Cardiovascular disease, Genetic disorder, Skin Disorder
49

Eisenmenger's syndrome
50

Ellis-van Creveld syndrome

Cardiovascular disease
51

Encephalitis

Pyrexia, Headache, Somnolence, Seizure, Mental confusion, Vomiting

Rest, Antiviral drug, Analgesic, Corticosteroid, Anticonvulsant, Fluid replacement More

Old age, Child, Immunocompromised host

Infectious disease, Central Nervous System Diseases
52

Enchondromatosis
53

Toxic epidermal necrolysis
54

Parry-Romberg syndrome
55

Factor XII Deficiency
56

Fanconi anemia

Anemia, Nutrition or electrolyte disorder, Blood disorder, Genetic disorder More
57

Felty's syndrome

Arthritis
58

McCune-Albright syndrome

Genetic disorder
59

Fox-Fordyce Disease
60

Friedreich Ataxia
61

Fusobacterium
62

Gardner's syndrome
63

Gaucher Disease
64

Gerstmann syndrome
65

Giant Lymph Node Hyperplasia
66

Glycogen storage disease type I
67

Glycogen storage disease type II
68

Glycogen storage disease type IV
69

Glycogen storage disease type V

Metabolic disorder
70

Tarui Disease
71

Goldenhar Syndrome
72

Guillain-Barré syndrome

Hydrocephalus, Hypertension, Back pain, Cardiac arrhythmia, Dysphagia, Paresthesia, Adie syndrome, Orthostatic hypotension, Dyspnea, Muscle weakness, Peripheral Motor Neuropathy, Facial Paresis, Slurred Speech, Dysesthesia, Leg pain, Hyporeflexia, Lower motor neurone lesion, Bulbar palsy More

Physical therapy, Mechanical ventilation, Plasmapheresis, Intravenous immunoglobulin More

Hodgkin's lymphoma, Rabies, Old age, Younger age, HIV infection, Surgery, Mononucleosis More

Nervous system disease, Peripheral neuropathy, Autoimmune Disease, Inflammatory and toxic neuropathy More
73

Hallermann-Streiff syndrome
74

Pantothenate kinase-associated neurodegeneration

Genetic disorder, Central Nervous System Diseases
75

Hamartoma Syndrome, Multiple
76

Hartnup disease
77

Budd-Chiari syndrome

Cardiovascular disease, Liver disease
78

Wilson's disease

Choreoathetosis, Arthropathy, Ascites, Jaundice, Cataract, Muscle weakness, Splenomegaly, Hepatomegaly, Edema, Parkinsonism, Tremor, Blue nails, Fatty liver, Hemolytic anemia, Kayser-Fleischer ring, Hypouricemia, Hypercalciuria More

Dimercaprol, Pyridoxine, Liver transplantation, Penicillamine, Zinc acetate, Triethylene tetramine More

Genetic predisposition to Wilson's disease

Nervous system disease, Genetic disorder, Nutrition disorder, Liver disease More
79

Hereditary Motor and Sensory Neuropathies
80

Von Hippel-Lindau disease

Cardiovascular disease, Nervous system disease, Genetic disorder
81

Hirschsprung's disease

Constipation, Watery diarrhea, Failure to pass meconium, Vomiting, Underweight, Stunted growth, Malabsorption, Abdominal distension More

Colostomy, Ileostomy

Male, Multiple endocrine neoplasia type 2b, Family history of Hirschprung's Disease More

Congenital disorder, Gastrointestinal Disorders, Digestive disease
82

Kikuchi-Fujimoto disease
83

Langerhans cell histiocytosis
84

Histiocytosis, Sinus
85

Hodgkin Disease
86

Horner's syndrome
87

Huntington Disease
88

Primary aldosteronism

Endocrine diseases, Adrenal gland disease
89

Hyperostosis, Diffuse Idiopathic Skeletal
90

Hypopituitarism

Nervous system disease, Endocrine diseases
91

Syndrome of inappropriate antidiuretic hormone
92

Intestinal Polyps
93

Neuromyotonia

Nervous system disease, Musculoskeletal disorders
94

Primary ciliary dyskinesia

Otorhinolaryngologic Diseases, Respiratory disease, Genetic disorder
95

Kearns-Sayre syndrome
96

Darier's disease
97

Klippel-Feil syndrome
98

Klippel Trenaunay Weber syndrome
99

Klüver-Bucy syndrome
100

Korsakoff's syndrome

Nervous system disease, Mental illness