A New Nose Grown on Patient's Forehead

Xiaolian growing his own nose, courtesy of  medicaldaily.com

In Fuzhou City east of China's Fujian Province lives a man who is growing a new nose on his forehead. After suffering an infection from an automobile accident, Xiaolian, lost his nose after failing to seek treatment. The surgeons have used a tissue expander along with cartilage taken from Xiaolian's ribs to mold the nose onto Xiaolian's forehead.

Harlequin Ichthyosis

Overview

Harlequin ichthyosis a medical condition in which a new born is covered in thick, hard, and patchy diamond shaped plates of skin. In between the plates are deep cracks which can cause abnormalities in the appearance of eyes, nose, mouth, arms and legs. Movement for these individuals are very limited as deep cracks are developed between the bending portions of their bodies making it painful to move.

A new born with Harlequin ichthyosis, courtesy of kardzmed.com

Raynaud's disease

Overview

Raynard's disease is a condition in which the flow of blood in an individual's hands, feet, nose or ears are restricted. In this condition, the body does not send enough blood to the affected areas causing those areas to feel cold and numb. Raynard's phenomenon generally occurs when the body overreacts to cold temperatures or stress. Many people do not seek help for this disease as it is seen more as an annoyance rather than something that is debilitating. 

An individual with Raynaud's disease, courtesy of cedars-sinai.edu

Proteus Syndrome

Overview

Proteus Syndrome is a condition in which there are large overgrowths of the body's bones, skin and tissue. Most commonly, an individual afflicted with Proteus Syndrome will have asymmetric disfigurement of the bones in the limbs, skull and spine. Those with Proteus Syndrome generally don't show symptoms until 6-18 months and the condition worsens with age.

Sian Mumtaz of Lahore Pakistan

Complications of Proteus Syndrome include: developing benign tumors and deep venous thrombosis (blood clots) that could cause pulmonary embolisms or a blockage of the main artery of the lung.

The Woman Who Can't Gain Weight

Meet Lizzie Velasquez, a 24 year-old woman who cannot gain weight. Doctors believe that she was born with a form of Neonatal Progeriod Syndrome (NPS) which is general characterized by premature aging, a large skull filled with veins, and decreased body fat.  

 Check out Lizzie Speaking at a TEDx Event!

 Lizzie was born four weeks prematurely and at a mere 2lbs and 11 ounces.

Abnormal set of Twins: Craniofacial Duplication

Edward Mordrake was believed to have an extra face that could laugh and cry--he committed suicide at the age of 23.

Overview

Craniofacial Duplication is extremely rare and is form of conjoined twinning that occurs in about 0.4 percent of all conjoined twin cases. In all cases a single head with two cranial structures are attached to one body. The first case (discovered in literature) was found in 1884 and since then, there have been 35 cases known world wide.

Craniofacial Duplication of a girl at 2 and 1/2 weeks old from India

Craniofacial duplication is formed during the 2nd week of pregnancy which is a result of the embryo not spitting into two separate twins.

Apert Syndrome

Overview

Apert Syndrome is a genetic condition in which the fusion of the bones in the skull, fingers and toes occurs prematurely during embryonic development. This condition is due to mutations in the FGFR2 gene which is responsible for production of a protein called fibroblast growth factor receptor 2. The protein is embedded in the cell membrane where one end is located on the inside of the cell while the other end is on the outside so that it can receive signals from the cell's outside environment. When a growth factor binds to protein, a series of chemical reactions takes place that tells the cell what to do. FGFR2 is responsible for bone growth during embryonic development. For individuals with Apert syndrome, the signaling that the FGFR2 protein receives is delayed causing the bones to fuse prematurely.

Displays the fusion of the bones in the hands, a symptom of Apert syndrome courtesy of wuffin.info.com