What are the most uncommon disease?
Five rare diseases you never knew existed
- Stoneman Syndrome. Frequency: one in two million people.
- Alice In Wonderland Syndrome (AIWS) Frequency: currently unknown.
- Hutchinson-Gilford Progeria Syndrome (HGPS) Frequency: one in four million.
- Alkaptonuria.
- Chronic Focal Encephalitis (Rasmussen’s Encephalitis)
What are some diseases that are rare?
Rare Diseases
- Agammaglobulinemia.
- Goodpasture Syndrome.
- Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis)
- Leukocyte Adhesion Deficiency.
- Pediatric Bruton Agammaglobulinemia.
- Pediatric Severe Combined Immunodeficiency.
- Schnitzler Syndrome.
- X-Linked (Bruton) Agammaglobulinemia.
What is Grayson’s syndrome?
Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.
What is William’s Syndrome?
Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.
What is a rare genetic syndrome?
Summary. KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another.
What are 3 inherited diseases?
Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance….7 single gene inheritance disorders
- cystic fibrosis,
- alpha- and beta-thalassemias,
- sickle cell anemia (sickle cell disease),
- Marfan syndrome,
- fragile X syndrome,
- Huntington’s disease, and.
- hemochromatosis.
What are the 6 killer diseases?
Of great importance to public and child health are the vaccines against the so-called six killer diseases of childhood-measles, pertussis, diphtheria, tetanus, tuberculosis and poliomyelitis.
What is an example of a syndrome?
For instance, Irritable Bowel Syndrome, Chronic Fatigue Syndrome, or Polycystic Ovary Syndrome, all of which are more common in women, and in the case of Polycystic Ovary Syndrome, only occur in women. Syndromes are defined by a group of signs or symptoms.
What is the weirdest disease in the world?
1.Elephant syndrome. This takes the number one spot for the worlds strangest disease. This condition is causing overgrowth in skin and often irregular bone development. An estimate of 120 people are currently living with this syndrome. It’s possibly to live with it, but the life expectancy is significantly lower.
How rare are rare diseases?
Rare diseases are conditions that affect a small number of people compared to the population as a whole. A disease is considered to be rare when it affects 1 out of 2000 persons. It is also deemed to be scarce in one region but is common in another. There are thousands of rare diseases in the world.
What causes rare diseases?
The exact cause for many rare diseases remains unknown. Still, for a significant portion, the problem can be traced to mutations (changes) in a single gene. Such diseases are referred to as rare, genetic diseases.
What are some rare diseases?
Rare diseases come in many forms and include some cancers, auto-immune diseases, metabolic conditions and inherited malformations. Some examples of rare diseases are: cystic fibrosis. muscular dystrophy.