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Mermaid Syndrome

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by

Lindsay Barks

on 23 April 2014

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Transcript of Mermaid Syndrome

Shiloh Pepin
Thanks For Watching!
Causes of Sirenomelia
The appearance of mermaid syndrome may be completely random instead of the result of a genetic mutation. Mothers who consume alcohol, use tobacco and have diabetes while pregnant raise the risk that their child may contract sirenomelia.
Treatments
Most individuals with mermaid syndrome die still-born or shortly after birth. For long-term survival to be possible, both legs must be surgically split. Waste (feces and urine) is collected through bags attached to the torso because many individuals have no urinary openings or large intestines. Many medications are usually taken to account for the poor health caused by organ failure and defects.
Survivors
Both Milagros Cerrón (from Peru) and Tiffany Yorks (from America) are the only two survivors of sirenomelia. Both had their legs separated, can now walk and are still alive.
Sirenomelia: Mermaid Syndrome
Looking at the life of Shiloh:
Who was Shiloh Pepin?
What is Sirenomelia?
Definition
Genetics
Lindsay Barks & Ruby Lapointe
Shiloh was born with Sirenomelia Mermaid Syndrome in 1999 and is the only one of three survivors of this syndrome to not have her legs surgically separated.
"What you are inside is what makes you a star"- Shiloh Pepin
Died at the age of 10
Sirenomelia, or mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. The legs are fused together from the reproductive area to just above the feet or including the feet.
Incidence Rate


Mermaid syndrome is a very uncommon disease. There are only about 300 cases reported throughout the whole world. The incidence rate was 0.98 of 100,000 births in a survey of 25,290,172 people.
Symptoms
Infants with sirenomelia have only one umbilical artery rather than the healthy two, almost all the time. They are commonly underweight at birth.
People with sirenomelia have their legs completely fused together, may have two separate feet or both feet attached, have no anal openings or genitalia half of the time, and often have issues with spinal deformities and lack of organs/ organ failure.
Current/ Future Research
Interesting Facts
In studying mice, scientists have discovered the disease may be caused by a lack of Cyp26a1 (enzyme that degrades retinoic acid) or may be caused by reduced signaling of bone morphogenetic protein in the caudal embryonic region. A vascular defect may cause the caudal body (legs) to fuse. A malformation of the mesoderm (a germ layer in the early embryo) may also have the same effect.
Tiffany Yorks
Milagros Cerrón
Mermaids in folklore may have been based on the appearance of people with sirenomelia.
Sirenomelia is called sirenomelia because "siren" is another term for "mermaid."
The disease was mistaken for caudal regression syndrome (absence of legs), but is now an independent syndrome.
Identical twins are more likely to develop mermaid syndrome.
Plans are being made to study sirenomelia at a molecular level in the future. Much more is to be learned about the exact origins of the disease and the significance of retinoic acid (RA) and bone morphogenetic protein (bmp) in the disease.
Full transcript