What Are Some Rare Diseases?


Quick Answer

Examples of rare diseases include abetalipoproteinemia, achondroplasia, Eisenmenger syndrome, Kabuki syndrome and mal de debarquement, according to National Organization for Rare Disorders, Mayo Clinic, WebMD and the Boston Children's Hospital. Abetalipoproteinemia is an inherited disease in which the patient does not absorb dietary fat and vitamins properly, explains NORD. It results in difficulty in walking, abnormalities in the blood and deterioration of the nerves and muscles.

Continue Reading
What Are Some Rare Diseases?
Credit: Tim Hawley DigitalVision Getty Images

Full Answer

Achondroplasia is another genetic disorder, notes NORD. It is a form of dwarfism that results in the person having an unusually large head; short upper arms, legs and hands; and a prominent brow, buttocks and stomach.

People born with Eisenmenger syndrome have a hole between two chambers of their hearts, reports Mayo Clinic. This causes their blood to flow abnormally, leading to damage to the blood vessels that serve the lungs. This disease is life-threatening and requires careful monitoring.

Kabuki syndrome is a condition that affects the facial features and causes some degree of mental impairment, states the Boston Children's Hospital. Children with Kabuki syndrome often have arched eyebrows with thick eyelashes, wide-set eyes and large ears.

Mal de debarquement is a disease in which a person still feels as if she is bobbing or rocking after she has gotten off a boat or other conveyance, notes WebMD. The patient may also experience visual disturbances, brain fog, headache and earache.

Learn more about Conditions & Diseases
Related Videos

Related Questions