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

Progeria

Overview

Progeria (or Hutchinson-Gilford progeria) is known as a condition that causes children to rapidly age beginning at the first two years of their lives. At birth, these children appear to be healthy however, after the first several (9-24) months of their lives they begin to show delayed growth, distinctive facial features and low body weight. Progeria is an extremely rare condition and is not passed down through generations as the prognosis is terminal at a very young age. The average life expectancy of a child with progeria is 13 years however they have been known to live into their early 20s. The cause of death for these children is usually attributed to heart failure or strokes.

A young girl with progeria, courtesy of abcnews.com

Causes

The gene mutation of

Elephantiasis

Overview

Elephantiasis (also known as lymphedema or filariasis) is the swelling that occurs generally in the arms and legs. The swelling typically affects one arm or leg at a time but sometimes can affect both. The enlargement of ones limbs is caused by a blockage of the lymphatic system which results in a fluid known as lymph to accumulate in the affected area. The lymphatic system is an important part of the immune and circulatory system as it helps prevent the blockage of the lymph fluid. The lymph vessels help drain the thin watery fluid known as lymph from different areas of the body into the blood stream.

A man seeking treatment for his Filariasis, courtesy of www.physio-pedia.com

Causes

 Lymphedema commonly occurs in individuals who have recently underwent cancer treatment to remove damaged lymphnodes. In countries where elephantiasis prevalent (countries in the tropics, sub-tropics of Asia, the Caribbean, South America and Africa), the affliction is commonly by a microscopic thread-like parasitic worm

Gigantism

Overview

Gigantism is a condition that causes an individual to grow uncontrollably at an extremely rapid rate. Gigantism is most commonly caused by a benign (non cancerous) tumor on the pituitary gland located in the brain. This form of gigantism occurs during childhood before the bone growth plates have fused together.

Elisany da Cruz Silva at age 17 from Brazil standing with boyfriend and family at a staggering 6ft 8 inches tall

 

Another form of gigantism known as

Waardenburg Syndrome

Waardenburg Syndrome Overview

The condition known as Waardenburg Syndrome contains four different subdivisions which are placed in their categories based on the conditions present in the affected individual. Each individuals symptoms may vary depending on the case however, there are some symptoms that tend to be present in each patient diagnosed with Wardenburg's Syndrome including:

• congenital hearing loss (in about 58% of individuals)
• loss of pigment in skin
• usually a white streak of hair growing above the forehead and eventual premature greying of the hair (around the age of 30)
• bright blue eyes or two different colored eyes (heterochromia)
• nose abnormalities
• eyebrows extending towards the middle of the face
• wide nasal bridge

 

A young boy with Waardenburg Syndrome courtesy of reddit.com

 

Waardenburg Syndrome type 1 (WS1) and 2 (WS2) a dominate

Conjoined Twins

Hi Everyone!

For my very first blog I have chosen to share some knowledge on conjoined twins. So here goes!

Conjoined twins is an extremely rare phenomenon and occurs in about one in 200,000 births. Around 40-60% are stillborn and only 35% survive longer than one day. It is not known why, but females tend to have higher chances of survivability than their male counterparts despite most conjoined twins in the womb being male.

Courtesy of tvtropes

Question.
How are conjoined twins formed?

Welcome!

Hi Everyone!

This blog is going to showcase some rare and amazing medical conditions. I'm interested in learning about different types of medical conditions and will be presenting these conditions in a sensitive and informative manner. So if you're interested in learning about different types of medical conditions, then keep reading!