Sirenomelia
Encyclopedia
Sirenomelia, alternatively 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.
, 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 tract
s and genitals
share a single tube.
This birth defect occurs during the gastrulation week (week 3) of embryological 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. 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 Lima
, while the City of Lima has pledged to pay for many of the operations.
in order to separate her legs before she was one year old. She is the longest-surviving sirenomelia patient to date. She still has problems getting around since her leg bones are very fragile. She compensates by using crutches or a wheelchair if she sustains a bad fracture.
, United States
on August 4, 1999, 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. Her natural kidney failed when she was just 3 months old. After that she was on 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
. Shiloh was the only one of the three survivors of sirenomelia without surgery for separation of the conjoined legs. She died fighting a serious case of pneumonia
on October 23, 2009, at Maine Medical Center
in Portland, Maine
, at the age of 10. Shiloh gained a following of admirers by documenting her condition on TV, Facebook
and the Internet
.
Mermaid
A mermaid is a mythological aquatic creature with a female human head, arms, and torso and the tail of a fish. A male version of a mermaid is known as a "merman" and in general both males and females are known as "merfolk"...
's tail.
This condition is found in approximately one out of every 100,000 live births (about as rare as conjoined twins
Conjoined twins
Conjoined twins are identical twins whose bodies are joined in utero. A rare phenomenon, the occurrence is estimated to range from 1 in 50,000 births to 1 in 100,000 births, with a somewhat higher incidence in Southwest Asia and Africa. Approximately half are stillborn, and a smaller fraction of...
) and is usually fatal within a day or two of birth because of complications associated with abnormal kidney
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
and urinary bladder
Urinary bladder
The urinary bladder is the organ that collects urine excreted by the kidneys before disposal by urination. A hollow muscular, and distensible organ, the bladder sits on the pelvic floor...
development and function. More than half the cases of sirenomelia result in stillbirth
Stillbirth
A stillbirth occurs when a fetus has died in the uterus. The Australian definition specifies that fetal death is termed a stillbirth after 20 weeks gestation or the fetus weighs more than . Once the fetus has died the mother still has contractions and remains undelivered. The term is often used in...
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
Aorta
The aorta is the largest artery in the body, originating from the left ventricle of the heart and extending down to the abdomen, where it branches off into two smaller arteries...
in utero. Maternal diabetes has been associated with caudal regression syndrome
Caudal regression syndrome
Caudal regression syndrome or sacral agenesis is a little-known and rare congenital disorder in which there is abnormal fetal development of the lower spine—the caudal partition of the spine....
and sirenomelia, although a few sources question this association.
VACTERL-H is an expanded form of the VACTERL association
VACTERL association
VATER syndrome or VACTERL association is a non-random association of birth defects. The reason it is called an association, rather than a syndrome is that while all of the birth defects are linked, it is still unknown which genes or sets of genes cause these birth defects to occur.Each child with...
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
Caudal regression syndrome
Caudal regression syndrome or sacral agenesis is a little-known and rare congenital disorder in which there is abnormal fetal development of the lower spine—the caudal partition of the spine....
; however, it was reclassified to be considered a separate condition.
Notable cases
Only a handful of patients who did not have the usual kidney and bladder complications have survived beyond birth with this condition, 3 of them being:Milagros Cerrón
Milagros Cerrón Arauco was born on April 27, 2004, in HuancayoHuancayo
Huancayo with a rock') is the capital of the Junín Region, in the central highlands of Peru. It is located in Junín Province, of which it is also capital. Situated near the Mantaro Valley at an altitude of 3,271 meters, it has a population of 377,000 and is the fifth most populous city of the...
, Peru
Peru
Peru , officially the Republic of Peru , is a country in western South America. It is bordered on the north by Ecuador and Colombia, on the east by Brazil, on the southeast by Bolivia, on the south by Chile, and on the west by the Pacific Ocean....
. 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
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
and a very small right one located very low in her body. In addition, her digestive
Gastrointestinal tract
The human gastrointestinal tract refers to the stomach and intestine, and sometimes to all the structures from the mouth to the anus. ....
, urinary tract
Urinary system
The urinary system is the organ system that produces, stores, and eliminates urine. In humans it includes two kidneys, two ureters, the bladder and the urethra.-Kidney:...
s and genitals
Sex organ
A sex organ, or primary sexual characteristic, as narrowly defined, is any of the anatomical parts of the body which are involved in sexual reproduction and constitute the reproductive system in a complex organism; flowers are the reproductive organs of flowering plants, cones are the reproductive...
share a single tube.
This birth defect occurs during the gastrulation week (week 3) of embryological 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
Surquillo
Surquillo is a district in Lima, Peru. It is bordered by the districts of San Isidro and San Borja on the north; by Miraflores on the south and west; and by Santiago de Surco on the east....
in Lima
Lima
Lima is the capital and the largest city of Peru. It is located in the valleys of the Chillón, Rímac and Lurín rivers, in the central part of the country, on a desert coast overlooking the Pacific Ocean. Together with the seaport of Callao, it forms a contiguous urban area known as the Lima...
. The procedure, however, was so intensive that she became traumatized
Psychological trauma
Psychological trauma is a type of damage to the psyche that occurs as a result of a traumatic event...
to the degree of losing her ability to form proper speech patterns, leaving her nearly mute
Speech disorder
Speech disorders or speech impediments are a type of communication disorders where 'normal' speech is disrupted. This can mean stuttering, lisps, etc. Someone who is unable to speak due to a speech disorder is considered mute.-Classification:...
. 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
Anus
The anus is an opening at the opposite end of an animal's digestive tract from the mouth. Its function is to control the expulsion of feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest,...
, urethra
Urethra
In anatomy, the urethra is a tube that connects the urinary bladder to the genitals for the removal of fluids out of the body. In males, the urethra travels through the penis, and carries semen as well as urine...
and genitalia.
Milagros' parents are from a poor village in Peru's Andes Mountains
Andes
The Andes is the world's longest continental mountain range. It is a continual range of highlands along the western coast of South America. This range is about long, about to wide , and of an average height of about .Along its length, the Andes is split into several ranges, which are separated...
; the Solidarity Hospital has given a job to her father Ricardo Cerrón so that the family can remain in Lima
Lima
Lima is the capital and the largest city of Peru. It is located in the valleys of the Chillón, Rímac and Lurín rivers, in the central part of the country, on a desert coast overlooking the Pacific Ocean. Together with the seaport of Callao, it forms a contiguous urban area known as the Lima...
, while the City of Lima has pledged to pay for many of the operations.
Tiffany Yorks
Tiffany Yorks of the United States (born May 7, 1988) underwent successful surgerySurgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
in order to separate her legs before she was one year old. She is the longest-surviving sirenomelia patient to date. She still has problems getting around since her leg bones are very fragile. She compensates by using crutches or a wheelchair if she sustains a bad fracture.
Shiloh Pepin
Shiloh Jade Pepin (August 4, 1999 - October 23, 2009) was born in Kennebunkport, MaineKennebunkport, Maine
Kennebunkport is a town in York County, Maine, United States. The population was 3,720 at the 2000 census. It is part of the Portland–South Portland–Biddeford metropolitan statistical area....
, United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
on August 4, 1999, with her lower extremities fused, no bladder, no uterus
Uterus
The uterus or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species...
, no rectum, only 6 inches of large colon
Colon (anatomy)
The colon is the last part of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body, and is the site in which flora-aided fermentation of unabsorbed material occurs. Unlike the small intestine, the colon does not play a...
, no vagina
Vagina
The vagina is a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles. Female insects and other invertebrates also have a vagina, which is the terminal part of the...
, and with only one quarter of a kidney
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
and one ovary
Ovary
The ovary is an ovum-producing reproductive organ, often found in pairs as part of the vertebrate female reproductive system. Ovaries in anatomically female individuals are analogous to testes in anatomically male individuals, in that they are both gonads and endocrine glands.-Human anatomy:Ovaries...
. Her parents initially anticipated she could expect only a few months of life. Her natural kidney failed when she was just 3 months old. After that she was on dialysis
Dialysis
In medicine, dialysis is a process for removing waste and excess water from the blood, and is primarily used to provide an artificial replacement for lost kidney function in people with renal failure...
. A kidney transplant
Kidney transplantation
Kidney transplantation or renal transplantation is the organ transplant of a kidney into a patient with end-stage renal disease. Kidney transplantation is typically classified as deceased-donor or living-donor transplantation depending on the source of the donor organ...
at age 2 lasted a number of years, and in 2007 a second kidney transplant was successful. She attended Consolidated Elementary School
Elementary school
An elementary school or primary school is an institution where children receive the first stage of compulsory education known as elementary or primary education. Elementary school is the preferred term in some countries, particularly those in North America, where the terms grade school and grammar...
. Shiloh was the only one of the three survivors of sirenomelia without surgery for separation of the conjoined legs. She died fighting a serious case of pneumonia
Pneumonia
Pneumonia is an inflammatory condition of the lung—especially affecting the microscopic air sacs —associated with fever, chest symptoms, and a lack of air space on a chest X-ray. Pneumonia is typically caused by an infection but there are a number of other causes...
on October 23, 2009, at Maine Medical Center
Maine Medical Center
Maine Medical Center is a 637 licensed-bed teaching hospital located in Portland, Maine, United States with a staff of over 6,000 people. Founded in 1874, it is the largest hospital in northern New England with 27,000 inpatients, more than 500,000 outpatient visits and over 16,000 surgeries...
in Portland, Maine
Portland, Maine
Portland is the largest city in Maine and is the county seat of Cumberland County. The 2010 city population was 66,194, growing 3 percent since the census of 2000...
, at the age of 10. Shiloh gained a following of admirers by documenting her condition on TV, Facebook
Facebook
Facebook is a social networking service and website launched in February 2004, operated and privately owned by Facebook, Inc. , Facebook has more than 800 million active users. Users must register before using the site, after which they may create a personal profile, add other users as...
and the Internet
Internet
The Internet is a global system of interconnected computer networks that use the standard Internet protocol suite to serve billions of users worldwide...
.
External links
- Birth Disorder Information Directory - contains many pointers to other references