Diprospus (sometimes called “craniofacial duplication”) is a rare disorder in which the face is duplicated on the head. This is not to be confused with fetus in fetu (number 9), which is a joining of two separate fetuses; diprosopus is caused by a protein called, believe it or not, “sonic hedgehog homolog.” The odd name is due to a controversial tradition in molecular biology to use unusual names for genes. The protein determines the makeup of the face, and when there is too much of it, you get a second face in a mirror image. If you do not have enough protein, you can end up with underdeveloped facial features. Children with this defect are normally stillborn, but a girl, Lali Singh, born in 2008, survived for two full months before dying of a heart attack.



The Elephant Man, Joseph Merrick, is the most famous case of Proteus syndrome. The disease causes the excessive bone and skin growth, and frequently comes with tumors. Only two hundred cases have been confirmed worldwide since the disease was officially discovered in 1979 It is possible to have a minor form of this disease, which can go undiagnosed. The case of the Elephant Man has been the sole reason that this disease is so widely known. Sufferers have normal brain function and intelligence.



Mobius syndrome is a rare disorder in which the facial muscles are paralyzed. In most cases, the eyes are also unable to move from side to side. The disease prevents a sufferer from having any facial expressions, which can make them appear to be uninterested or “dull”—sometimes leading people to think they are rude. Sufferers have completely normal mental development. The causes are not fully understood and there is no treatment aside from addressing the symptoms (such as an inability to feed as a baby).



Hutchinson-Gilford progeria syndrome (progeria) will be familiar to people old enough to remember the television program That’s Incredible from the ’80s in which a young sufferer of the disorder appeared. The disease causes premature aging—so rapidly that a young child can look like a very old person. The disease is especially interesting for scientists as it may lend clues to the natural aging process in man. The disease is caused by a genetic mutation and does not pass from parent to child. There is no known cure and most children with the disease do not live beyond the age of thirteen—usually dying of stroke or heart attack (diseases usually associated with old age).



First off, note the spelling it is elephantiasis, not elephant-itis, as many people wrongly think. Elephantiasis is a thickening of the skin (as opposed to proteus syndrome which is a thickening of the bones as well as the skin). Unfortunately, this is a disease any one of us can get as it is caused by parasitic worms passed on through mosquito bites. It is, consequently, not uncommon in tropical regions and in Africa. A slightly different form of the disease is caused by contact with certain types of soil. In some parts of Ethiopia, up to 6 percent of the population suffers from the disorder. It is one of the most common disabilities in the world. Efforts to eradicate the disease are well underway and it is hoped that it will be successfully relegated to the annals of history by 2020.



Fibrodysplasia ossificans progressiva (FOP for short) is a very rare disease that causes parts of the body (muscles, tendons, and ligaments) to turn to the bone when they are damaged. This can often cause damaged joints to fuse together, preventing movement. Unfortunately, surgical removal of the bone growths is ineffective as the body “heals” itself by recreating the removed bone. To make matters worse, the disease is so rare that it is often misdiagnosed as cancer, leading doctors to perform biopsies, which can spark worse growth of these bone-like lumps. The most famous case is Harry Eastlack whose body was so ossified by his death that he could only move his lips. His skeleton is now on display at the Mutter Museum. There is no cure.



Lewandowsky-Lutz dysplasia (also known as epidermodysplasia verruciformis) is an extremely rare inheritable disorder in which masses of warts form on the skin. It normally affects the hands and feet and while it can start in middle age, it normally begins between the ages of one and twenty. There is no known effective treatment for the disease surgery can be used to remove warts. Unfortunately, after surgery, warts begin to return and it is estimated that a sufferer would need at least two surgeries per year to remove warts each time they grow back. In 2007 a sufferer had surgery for the disease and 95 percent (thirteen pounds in this case) of warts were removed.




Leave a Reply

Your email address will not be published. Required fields are marked *