Pediatric Rare Disease - mediapple
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About Pediatric Rare Disease

A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold.

Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthday.[1] With only three diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease.

No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular group of people, but still be common in another.

Pediatric Rare Disease

Batten Disease

Duchenne muscular dystrophy (DMD)

CANDLE Syndrome

Childhood Interstitial Lung Disease or chILD,

Ehlers-Danlos syndromes

Ellis Van Creveld syndrome

Gaucher disease

Krabbe Disease


Pompe disease



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