Sirenomelia

Sirenomelia
Sirenomelia, Lyon natural history and anatomy museum
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.2
ICD-9-CM	759.89
MeSH	D004480
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Sirenomelia, alternatively known as Mermaid Syndrome, is a rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail.

This condition is found in approximately one out of every 100,000 live births (about as rare as conjoined twins) and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and urinary bladder development and function. More than half the cases of sirenomelia result in stillbirth and this condition is 100 times more likely to occur in identical twins than in single births or fraternal twins. It results from a failure of normal vascular supply from the lower aorta in utero. Maternal diabetes has been associated with caudal regression syndrome and sirenomelia, although a few sources question this association.

VACTERL-H is an expanded form of the VACTERL association that concludes that this diagnosis is a less severe form of sirenomelia. The disorder was formerly thought to be an extreme case of caudal regression syndrome; however, it was reclassified to be considered a separate condition.

Only a few individuals who did not have fatal kidney and bladder complications are known to have survived beyond birth with this condition.

Tiffany Yorks of Clearwater, Florida (May 7, 1988 - February 24, 2016) underwent successful surgery in order to separate her legs before she was a year old. She was the longest-surviving sirenomelia patient to date. She suffered mobility issues due to her fragile leg bones, and compensated by using crutches or a wheelchair. She died on February 24, 2016 at the age of 27.

Shiloh Jade Pepin (August 4, 1999 – October 23, 2009) was born in Kennebunkport, Maine, United States with her lower extremities fused, no bladder, no uterus, no rectum, only 6 inches of large colon, no vagina, and with only one quarter of a kidney and one ovary. Her parents initially anticipated she could expect only a few months of life. At age 3, her natural kidney failed, and she began dialysis. A kidney transplant at age 2 lasted a number of years, and in 2007 a second kidney transplant was successful. She attended Consolidated Elementary School. She remained hopeful about her disease and joked often and lived her life happily, despite her challenges, as seen in her TLC documentary in "Extraordinary People: Mermaid Girl". Shiloh and her family were debating surgery because of the risks involved, even though it would improve her quality of life. Many people who have this condition receive surgery when they are young, but Shiloh was already 8 years old in the documentary and had not received surgery. Shiloh was the only one of the three survivors of sirenomelia without surgery for separation of the conjoined legs. She died of pneumonia on October 23, 2009, at Maine Medical Center in Portland, Maine, at the age of 10; having appeared on the Oprah Winfrey Show on September 22, 2009. Shiloh gained a following of admirers by documenting her condition on TV, Facebook, and the Internet.

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