I don’t remember this from the Disney movie…

Keeping in the theme of deforming syndromes… you can blame Oprah for making me pick Sirenomelia as this week’s topic.

Sirenomelia, or “mermaid syndrome”, is a very rare and usually lethal malformation that results in the fusion of the lower limbs of the fetus. Caused by afailure of normal vascular (blood) supply from the lower aorta while in utero, the child is found to have what resembles a “fish’s tail” instead of two separate legs and feet.

Recorded cases in history show that sometimes there are variations: Sometimes there is a single femur; other times both are present. Sometimes there are feet, sometimes there are none. Almost always the rotation of feet and knees is reversed, with the sole of the feet and the popliteal region facing forward. Basically, the feet resemble the “fin” of the “tail”.

There are always urogenital deformities. The child could be born without a bladder, simplified to non-existent external genitalia, and an imperforate anus. There are also spinal and vertebral column anomalies as well. Most babies die of this disease before birth or within twenty-four to forty-eight hours of delivery because of the bladder and kidney complications. The condition is such deforming that there’s usually little chance of survival, let alone a normal life.

This defect is “sporadic”, occurring in 60,000 to 100,000 live births, basically about as rare as conjoined twins. Sirenomelia is also more common in male babies. I’m not quite sure how they figure that, considering most of the time the genitalia is missing or barely there.

This picture shows a gross malformation of Sirenomelia. I would seriously say it’s not for the weak-stomached and entirely unsafe for those reading at work. From what I’ve seen, picture-wise of Sirenomelia, that was an extremely bad case. It also doesn’t even look like Sirenomelia, but that’s what it’s classified as.

This site roughly details three cases of Sirenomelia, complete with pictures and x-rays. Again, not exactly work-safe, but the x-rays are completely fascinating and show quite clearly the internal deformation that this defect causes.

Amazingly, there are said to be two living survivors of Sirenomelia:

Tiffany Yorks, now 16, was born with what doctor’s believe to be Sirenomelia (although some argue it was actually Caudal regression syndrome) and began treatment at 25 days old. Her legs were separated with the use of MRI images, and she was found to have separate thigh and shinbones, which really helped her case. As of 2000, she has had 13 reconstructive and plastic surgeries to give her a chance at normal life. She lives in Florida.

Milagros Cerron was born in April of 2004 in Peru, suffering Sirenomelia. In February of 2005, a four-hour operation to insert silicone bags between her legs to stretch the skin was successfully completed, followed in May by another surgery to separate her legs. This second surgery was successful. Down the road she faces genital reconstruction surgery, which doctors hope they can replace rudimentary anus, urethra and genitalia. (I’m thinking this was the baby on Oprah’s show.)

Finally, one last close up picture of severe Sirenomelia.

So, now I go back to fretting about what to write about next. If you guys ever have any suggestions or actually have a disease or condition you’d like to learn about, drop me a line. I’ll even mention your name!

(originally this was posted on 11.10.2005 at my short-lived column Plagues, Pestilences, and Other Plights on Inside Pulse. Expect others to follow in due course.)