Which Rare Diseases Affect Children?

By Mary Kugler, R.N., About.com Guide to Rare Diseases

Information about rare diseases that occur in children or begin in childhood.

1. Heart Diseases
2. Bone and Muscle Diseases
3. Storage Diseases
4. Digestive System Diseases

Heart Diseases

Children can be born with heart defects (called congenital heart disease). They can also develop heart problems due to a genetic syndrome or an illness (called acquired heart disease).

• Congenital Heart Defects
• Coarctation of the Aorta
• Eisenmenger Syndrome
• Hypoplastic Left Heart Syndrome

• Kawasaki Disease
• Patent Ductus Arteriosus
• Tetralogy of Fallot
• Transposition of the Great Arteries

Bone and Muscle Diseases

These rare diseases affect children's bones and/or muscles.

• Apert Syndrome
• Arthrogryposis
• Carpenter Syndrome
• Duchenne Muscular Dystrophy

• Ellis Van Creveld Syndrome
• Legg-Calve-Perthes Disease
• Osteogenesis Imperfecta

Storage Diseases

The body makes and breaks down chemical compounds all day. Sometimes there is an important ingredient missing from a chemical recipe in the body. When this happens, substances build up to toxic levels. This is what happens in storage diseases.

• Batten Disease
• Fabry Disease
• Fucosidosis
• Gaucher Disease
• Hunter Syndrome (MPS II)

• Hurler Syndrome (MPS I)
• Krabbe Disease
• Niemann-Pick Disease
• Pompe Disease

Digestive System Diseases

There are many types of birth defects and diseases that can occur in children's digestive systems.

• Gastroschisis
• Hirschsprung's Disease
• Prune Belly (Eagle-Barrett) Syndrome