SIRENOMELIA

Sirenomelia,it also known as Mermaid Syndrome, is a very 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.

There are 3 peoples that we know have this syndrome.

First: Shiloh Pepin

"She was missing a whole series of organs including her uterus and her bladder, and her large intestine," Dr. Matthew Hand, a kidney specialist at the Barbara Bush Children's Hospital at the Maine Medical Center, who treated Shiloh, told "20/20" in 2008. "She had no vaginal vault or rectum, and no way for urine to get out of her body. Most of these babies die because of poor renal tissue makeup in their body."

The cause of the disease is a still a mystery. Doctors believe that blood circulation doesn't develop normally and the womb, kidneys and other organs don't form as they should.

Having had her first kidney transplant at age two, and more than 150 surgeries and years of kidney dialysis in the eight years that followed, she spent her life under the care of doctors.

Shiloh was one of only three people in the world known to have survived this condition for any length of time. She finally died of pneumonia.

Shiloh's Journey

"20/20" profiled Shiloh and her family in January 2008. Shiloh's parents, Leslie and Elmer Pepin, said they knew it was possible that their child would be affected by the syndrome before Leslie gave birth.

"So if she had it, we were worried we wouldn't be able to love her," said Leslie. "[We] went through all these emotions, like you couldn't even believe. But she came out, and she had the biggest, blackest eyes. I remember [Elmer] saying, "She's beautiful."

Doctors warned that the condition is almost always fatal for a newborn. When Shiloh did not die at home, as some had expected, her parents brought her to Dr. Hand.

"Matt was the first physician who looked at Shiloh and saw a little girl who needed help, instead of a medical case that was uncertain," said Elmer.

Hand deferred to the parents in settling on a course of treatment. "The first thing I said to them was, 'What is it you want out of this?' They said three things. The first was that they wanted her to be home as much as she could, to be surrounded by her family. The second was for her to live as long as she could. And the third is that when it came time for her to pass away that she would be surrounded by people who loved her, and that she wouldn't be alone. And I said, 'Okay, we'll work with that, and we'll do the best that we can.'"

In fact, one of her favorite activities was dancing. She took ballet classes and participated in a rehearsal for a dance recital, sitting and swaying on the stage (she missed the recital itself because she fell ill). She was able to move by scooting her body across the floor.

"She has every reason in the world to be bitter and unhappy and miserable," said her father at the time. "And she's the exact opposite. She's happy. She's vibrant."

Shiloh was in the fifth grade at Kennebunkport Consolidated School.

Tiffany Yorks that had born May 7, 1988 underwent successful surgery in order to separate her legs before she was get in 1 year old. She is the longest-surviving Sirenomelia patient to date. She currently has enduring mobility issues due to her fragile leg bones. She compensates by using crutches or a wheelchair if she sustains a bad fracture. At this point Tiffany Yorks is 26 years old and living a very productive happy life.

Milagros that was born on April 27 2004, in Huancayo Peru Although most of Milagros’ internal organs, including her heart and lungs, are in perfect condition, she was born with serious internal defects, including a deformed left kidney and a very small right one located very low in her body. In addition, her digestive, urinary tracks and genitals share a single tube. This birth defect occurs during the gastrulation week (week 3) of embryonic development. Gastrulation establishes the three germ layers: Ectoderm, mesoderm and endoderm. It seems that complications such as defects in the urogenital system as mentioned above can be possibly due to malformations in the intermediate mesoderm.

A four-hour operation to insert silicone bags between her legs to stretch the skin was successfully completed on February 8, 2005. A successful operation to separate her legs to just above the knee took place May 31, 2005, in a "Solidarity Hospital" in  in Lima. The procedure, however, was so intensive that she became Traumatized to the degree of losing her ability to form proper speech patterns, leaving her nearly mute. It is not yet known if this is a physiological or psychological condition. However, at Milagros' second birthday, her mother reported that she knew more than 50 words. A second operation to complete the separation up to the groin took place on September 7, 2006^] A few weeks later, she took her first steps.

Her doctor Luis Rubio said he was pleased with the progress Milagros had made, but cautioned that she still needed 10 to 15 years of rehabilitation and more operations before she could lead a normal life. Particularly, she will require reconstructive surgery to rebuild her rudimentary anus, urethra and genitalia.

Milagros' parents are from a poor village in Peru's Andes mountains; the Solidarity Hospital has given a job to her father Ricardo Cerrón so that the family can remain in Llima, while the City of Lima has pledged to pay for many of the operations

SIRENOMELIA

Sirenomelia,it also known as Mermaid Syndrome, is a very 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.

There are 3 peoples that we know have this syndrome.

First: Shiloh Pepin

"She was missing a whole series of organs including her uterus and her bladder, and her large intestine," Dr. Matthew Hand, a kidney specialist at the Barbara Bush Children's Hospital at the Maine Medical Center, who treated Shiloh, told "20/20" in 2008. "She had no vaginal vault or rectum, and no way for urine to get out of her body. Most of these babies die because of poor renal tissue makeup in their body."

The cause of the disease is a still a mystery. Doctors believe that blood circulation doesn't develop normally and the womb, kidneys and other organs don't form as they should.

Having had her first kidney transplant at age two, and more than 150 surgeries and years of kidney dialysis in the eight years that followed, she spent her life under the care of doctors.

Shiloh was one of only three people in the world known to have survived this condition for any length of time. She finally died of pneumonia.

Shiloh's Journey

"20/20" profiled Shiloh and her family in January 2008. Shiloh's parents, Leslie and Elmer Pepin, said they knew it was possible that their child would be affected by the syndrome before Leslie gave birth.

"So if she had it, we were worried we wouldn't be able to love her," said Leslie. "[We] went through all these emotions, like you couldn't even believe. But she came out, and she had the biggest, blackest eyes. I remember [Elmer] saying, "She's beautiful."

Doctors warned that the condition is almost always fatal for a newborn. When Shiloh did not die at home, as some had expected, her parents brought her to Dr. Hand.

"Matt was the first physician who looked at Shiloh and saw a little girl who needed help, instead of a medical case that was uncertain," said Elmer.

Hand deferred to the parents in settling on a course of treatment. "The first thing I said to them was, 'What is it you want out of this?' They said three things. The first was that they wanted her to be home as much as she could, to be surrounded by her family. The second was for her to live as long as she could. And the third is that when it came time for her to pass away that she would be surrounded by people who loved her, and that she wouldn't be alone. And I said, 'Okay, we'll work with that, and we'll do the best that we can.'"

In fact, one of her favorite activities was dancing. She took ballet classes and participated in a rehearsal for a dance recital, sitting and swaying on the stage (she missed the recital itself because she fell ill). She was able to move by scooting her body across the floor.

"She has every reason in the world to be bitter and unhappy and miserable," said her father at the time. "And she's the exact opposite. She's happy. She's vibrant."

Shiloh was in the fifth grade at Kennebunkport Consolidated School.

Tiffany Yorks that had born May 7, 1988 underwent successful surgery in order to separate her legs before she was get in 1 year old. She is the longest-surviving Sirenomelia patient to date. She currently has enduring mobility issues due to her fragile leg bones. She compensates by using crutches or a wheelchair if she sustains a bad fracture. At this point Tiffany Yorks is 26 years old and living a very productive happy life.

Milagros that was born on April 27 2004, in Huancayo Peru Although most of Milagros’ internal organs, including her heart and lungs, are in perfect condition, she was born with serious internal defects, including a deformed left kidney and a very small right one located very low in her body. In addition, her digestive, urinary tracks and genitals share a single tube. This birth defect occurs during the gastrulation week (week 3) of embryonic development. Gastrulation establishes the three germ layers: Ectoderm, mesoderm and endoderm. It seems that complications such as defects in the urogenital system as mentioned above can be possibly due to malformations in the intermediate mesoderm.

A four-hour operation to insert silicone bags between her legs to stretch the skin was successfully completed on February 8, 2005. A successful operation to separate her legs to just above the knee took place May 31, 2005, in a "Solidarity Hospital" in  in Lima. The procedure, however, was so intensive that she became Traumatized to the degree of losing her ability to form proper speech patterns, leaving her nearly mute. It is not yet known if this is a physiological or psychological condition. However, at Milagros' second birthday, her mother reported that she knew more than 50 words. A second operation to complete the separation up to the groin took place on September 7, 2006^] A few weeks later, she took her first steps.

Her doctor Luis Rubio said he was pleased with the progress Milagros had made, but cautioned that she still needed 10 to 15 years of rehabilitation and more operations before she could lead a normal life. Particularly, she will require reconstructive surgery to rebuild her rudimentary anus, urethra and genitalia.

Milagros' parents are from a poor village in Peru's Andes mountains; the Solidarity Hospital has given a job to her father Ricardo Cerrón so that the family can remain in Llima, while the City of Lima has pledged to pay for many of the operations