Sirenomeliasirenomelia, sirenomelia or mermaid syndrome
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 as the nickname suggests
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
- 1 Notable cases
- 11 Tiffany Yorks
- 12 Shiloh Pepin
- 13 Milagros Cerrón
- 2 References
- 3 Further reading
Notable casesClassification of sirenomelia by the presence or absence of bones within the lower limb
I all bones of thigh and lower leg present
II fused fibula
III fibula absent
IV partially fused femur, fused fibula
V partially fused femur
VI fused femur, fused tibia
VII fused femur, tibia absent
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
Milagros Cerrón Arauco 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 tracts 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 the district of Surquillo 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
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 Lima, while the City of Lima has pledged to pay for many of the operations
- ^ Kallen, B; Castilla, E E; Lancaster, P A; Mutchinick, O; Knudsen, L B; Martinez-Frias, M L; Mastroiacovo, P; Robert, E 1992 "The cyclops and the mermaid: An epidemiological study of two types of rare malformation" Journal of Medical Genetics 29 1: 30–5 doi:101136/jmg29130 PMC 1015818 PMID 1552541
- ^ a b Sammons, Mary Beth November 26, 2009 "10-Year-Old Girl Born With Legs Fused Together" AOL Archived from the original on November 26, 2009
- ^ Abraham M Rudolph; Robert K Kamei; Kim J Overby 2002 Rudolph's Fundamentals of Pediatrics McGraw Hill p 217 ISBN 978-0-8385-8450-7 Retrieved 2008-04-21
- ^ Assimakopoulos, E; Athanasiadis, A; Zafrakas, M; Dragoumis, K; Bontis, J 2004 "Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies" Clinical and experimental obstetrics & gynecology 31 2: 151–3 PMID 15266776
- ^ Onyeije, Chukwuma; Sherer, David; Handwerker, Sara; Shah, Leena 2008 "Prenatal Diagnosis of Sirenomelia with Bilateral Hydrocephalus: Report of a Previously Undocumented form of VACTERL-H Association" American Journal of Perinatology 15 3: 193–7 doi:101055/s-2007-993925 PMID 9572377
- ^ Tiffany Yorks 24 February 2016 "This is Tiffanys cousin Jessica Tannehill Tiffany passed away this morning after a hard fight and she stayed" Tweet – via Twitter
- ^ a b ""Mermaid" girl takes first steps" BBC News 28 September 2006
- ^ a b ""Mermaid" girl's legs separated" BBC News 7 September 2006
- ^ TV program Body Shock, 10–11 pm, 18 May 2010, Channel 4
- ^ Laura Dolce 2009-10-23 "Community saddened at 'Mermaid girl' Shiloh Pepin's passing" SeacoastOnlinecom Retrieved 2011-12-01
- ^ "SHILOH PEPIN" The Oprah Show oprahcom May 16, 2011 Retrieved 4 March 2014 In Memoriam: The Oprah Show has hosted a number of unforgettable guests over the years Look back at some of those who are no longer with us
- Taori KB, Mitra K, Ghonga NP, Gandhi RO, Mammen T, Sahu J 2002 "Sirenomelia sequence mermaid: Report of three cases" Indian J Radiol Imaging 12 3: 399–401
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