SIRENOMELIA – NORD (National Organization for Rare Disorders)
Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs.
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Synonyms of Sirenomelia
- mermaid syndrome
- sirenomelia sequence
- sirenomelia syndrome
- sirenomelus
Shiloh Pepin might look like 8, y.o., but in fact she is unique. She was born with one of the rarest disorders know to man. Known as Mermaid Syndrome, the foetus fails to develop normally below the waist, resulting in a fusion of the lower limbs, and although there are only three known survivors worldwide- Shiloh is the only one not to have her legs separated by surgery. Source sirenomelia-syndrome.blogspot.com.au
Shiloh Pepin:Having only a quarter of a kidney, almost no large intestine,no rectum, no vagina and only one ovary, such an operation would have been dangerous for her. But now, as she reaches puberty, she’s entering the most risky and challenging time for her life. Source: sirenomelia-syndrome.blogspot.com.au
Shiloh Pepin: She was born in August 4, 1999 in Kennebunkport, Maine, United States. She was born with her lower extremities fused, without uterus and bladder, no vagina except 6 inches of the large colon and just one quarter of kidney and ovary. At the age of three, her natural kidney failed and a successful kidney transplant was performed. In 2007, second kidney transplant was performed. Unfortunately, she died of severe pneumonia at Maine Medical Centre, Portland, Maine at the age of ten on October 23, 2009. Source: sirenomelia-syndrome.blogspot.com.au Image You tube
GENERAL DISCUSSION
Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs. Additional malformations may also occur including genitourinary abnormalities, gastrointestinal abnormalities, anomalies of the lumbarsacral spine and pelvis and absence or underdevelopment (agenesis) of one or both kidneys. Affected infants may have one foot, no feet or both feet, which may be rotated externally. The tailbone is usually absent and the sacrum is partially or completely absent as well. Additional conditions may occur with sirenomelia including imperforate anus, spina bifida, and heart (cardiac) malformations. Sirenomelia is often fatal during the newborn period. The exact cause of sirenomelia is unknown, most cases occur randomly for no apparent reason (sporadically).
Some sources in the medical literature classify sirenomelia as the most severe form of caudal regression syndrome, a complex developmental disorder. However, recently many researchers have indicated that sirenomelia is a similar, but distinct, disorder. NORD has a separate report on caudal regression syndrome.
Milagros Cerron: She underwent three difficult surgeries in the last 5 years. Cerron now always smiles and enjoys her life no matter how hard it was for her before the surgeries. Source: Shared Good Stuffs. Com Image danielorbis.blogspot.com.au
SIGNS & SYMPTOMS
There are a wide range of physical malformations that can potentially occur with sirenomelia and the specific findings can vary greatly from one individual to another. Sirenomelia is associated with severe life-threatening complications and is often fatal in the first years of life. However, survival beyond infancy into later childhood or young adulthood has been reported in a handful of cases.
The characteristic finding of sirenomelia is partial or complete fusion of the lower legs. The degree of severity is highly variable. Affected infants may have only one femur (the long bone of the thigh) or may have two femurs within one shaft of the skin. Affected infants may have one foot, no feet or both feet, which may be rotated so that the back of the foot is facing forward.
Affected infants may also have a variety of urogenital abnormalities including absence of one or both kidneys (renal agenesis), cystic malformation of the kidneys, an absent bladder, narrowing of the urethra (urethral atresia). In addition, they may have an imperforate anus, a condition in which a thin covering blocking the anal opening or the passage that normally connects the anus and lowest part of the large intestine (rectum) fails to develop.
Infants with sirenomelia may also have abnormalities affecting the sacral and lumbar spine. In some patients, abnormal front-to-back curvature of the spine (lordosis) may occur. Affected individuals may also lack external genitalia. Absence of the spleen and/or the gallbladder has also been reported.
Defects affecting the abdominal wall may also occur such as protrusion of a portion of the intestines through a hole near the bellybutton (omphalocele). Some individuals with sirenomelia may have a meningomyelocele, a condition in which the membranes that cover the spine and, in some cases, the spinal cord itself protrude through a defect in the spinal column. Congenital heart defects and respiratory complications such as severe underdevelopment of the lungs (pulmonary hypoplasia) can also be associated with sirenomelia.
Image The Chirurgeons Apprentice.com
CAUSES
The exact cause of sirenomelia is unknown. Researchers believe that both environmental and genetic factors may play a role in the development of the disorder. Most cases appear to occur randomly for no apparent reason (sporadically), which suggests environmental factors or a new mutation. Most likely, sirenomelia is multifactorial, which means that several different factors may play a causative role. In addition, different genetic factors may contribute to the disorder in different people (genetic heterogeneity).
The environmental factors that play a role in the development of sirenomelia are unknown. Some individuals may have a genetic predisposition to developing the disorder. A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but it may not be expressed unless it is triggered or “activated” under certain circumstances, such as due to particular environmental factors. Researchers believe that environmental or genetic factors have a teratogenic effect on the developing fetus. A teratogen is any substance that can disrupt the development of an embryo or fetus.
In some individuals, sirenomelia is theorized to result from irregularities in early development of the blood circulating system (a disruptive vascular defect of the development of the vascular system) within the embryo. Some affected individuals have been found to have a single large artery arising from high in the abdominal cavity without the usual two arteries that normally branch out of the lower part of the aorta and carry blood to the rearward tail (caudal) end of the embryo. The single artery present (called a “steal” vessel since it essentially steals blood from the lower portion of the embryo) diverts the flow of blood which normally circulates from the aorta to the lower parts of the embryo and to the placenta. Thus the ‘steal’ vessel redirects the blood flow to the placenta without ever reaching the tail (caudal) end of the embryo. As a result of this rerouted blood flow, the steal vessel also diverts nutrients away from the blood-deprived portion of the embryo. Arteries in this caudal area are underdeveloped and tissues dependent upon them for nutrient supply fail to develop, are malformed, or arrest their growth in some incomplete stage. In individuals with sirenomelia, the lower limb bud of the embryo fails to divide into two legs. The underlying reason why these irregularities occur is unknown.
This syndrome is very rare and occurs in one out of 100,000 live births. The first couple of days after birth are very critical due to its complications, which arise from the abnormal bladder development, kidney and function. It has been seen that more than half of sirenomelia cases result in stillbirth and this condition is more common in identical twins than in single births or fraternal twins. Although, often-maternal diabetes is associated with sirenomelia and caudal regression syndrome, this thought is opposed by number of sources. Source: sirenomelia-syndrome.blogspot.com.au Image: You Tube
AFFECTED POPULATIONS
Sirenomelia affects males more often than females by a ratio of 2.7-1. The exact incidence is unknown, but sirenomelia is estimated to occur in approximately 1 in 60,000 to 100,000 births. Sirenomelia occurs with greater frequency in one twin of identical (monozygotic) twins than it does in fraternal (dizygotic) twins or individuals.
An early 20th-century example at the National Museum of Health & Medicine in Washington D.C. There are also three fetuses in the Anatomical Museum of the Second University of Naples, which have undergone 3D bone reconstructions Source: The Chirurgeons Apprentice.com
RELATED DISORDERS
Symptoms of the following disorders can be similar to those of sirenomelia. Comparisons may be useful for a differential diagnosis.
Caudal regression syndrome is a broad term for a rare complex disorder characterized by abnormal development of the lower (caudal) end of the spine. The spine consists of many small bones (vertebrae) that collectively form the spinal column. The spinal column is generally broken down into three segments – the cervical spine, consisting of the vertebrae just below the skull; the thoracic spine, consisting of the vertebrae in the chest region; and the lumbar spine, consisting of the vertebrae of the lower back. A triangularly-shaped bony structure called the sacrum joins the lumbar portion of spine to the pelvis. The sacrum consists of five vertebrae fused together. At the end of the sacrum is the tailbone (coccyx). A wide range of abnormalities may potentially occur in infants with caudal regression syndrome including abnormal development (agenesis) of the sacrum and coccyx and abnormalities of the lumbar spine. More severe malformations may occur in some cases. Abnormalities of the lower spine can cause a variety of additional complications including joint contractures, clubfeet and disruption or damage of the end of the spinal cord may occur, potentially causing urinary incontinence. Additional anomalies of the gastrointestinal tract, kidneys, heart, respiratory system, upper limbs and upper portions of the spine can also occur. The exact cause of caudal regression syndrome is unknown. Both environmental and genetic factors are suspected to play a role in the development of the disorder.
VACTERL association is a nonrandom association of birth defects that affects multiple organ systems. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial abnormalities; and (L) = (other) limb abnormalities. In addition, to the above mentioned features, affected children may also exhibit less frequent abnormalities including growth deficiencies and failure to gain weight and grow at the expected rate (failure to thrive). Further low-frequency findings include facial asymmetry (hemifacial microsomia), external ear malformations, lung lobation defects, intestinal malrotation and genital anomalies. VATER/VACTERL features are more common in twinning. In some cases, the acronym VATER association is used. Some researchers have added an (S) to the VACTERL or VATER acronym to represent a single umbilical artery instead of the normal two. Mental functioning and intelligence is usually unaffected; developmental delay/intellectual disability should suggest an alternative diagnosis. The exact cause of VACTERL association is unknown. Most cases occur randomly, for no apparent reason (sporadic). (For more information on this disorder, choose “VACTERL” as your search term in the Rare Disease Database.)
The Vrolik Museum in Amsterdam has both wet preparations and skeletal remains, all of which are on display to the public today. In —Harlequin Ichthyosis—sirenomelia is extremely fatal. There are no accounts of anyone with this condition surviving in the past. Most died within days of being born due to kidney and bladder failure. Even today, the odds are against those with sirenomelia, though there are a handful of examples of children living past infancy. Source: The Chirurgeons Apprentice.com
DIAGNOSIS
A diagnosis of sirenomelia can be made prenatally, most often during the second trimester, by fetal ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with sirenomelia.
TIFFANY YORKS WHO WAS BORN WITH INCREDIBLY RARE ‘MERMAID SYNDROME’. TIFFANY, NOW 25, IS THE ONLY PERSON IN THE WORLD TO SURVIVE PIONEERING TO CREATE TWO LEGS. SHE CAN NOW LEAD A NORMAL LIFE. TIFFANY LEARN TO SWIM UNAIDED BEFORE SHE WAS 1 YEAR OLD AND IS MORE AT HOME IN THE WATER THAN ON DRY LAND. TAMPA, FLORIDA SOURCE WORLDWIDE FEATURES.COM Image Keyword Suggest. Org
Tiffany Yorks born in United States on may 7, 1988 and she is currently the longest surviving patient with sirenomelia. Before she was one, she went through several surgeries for her legs to be separated. No matter how successful the surgeries were, she is still not strong enough to get around, as her fragile legs don’t support her much. She normally uses crutches or wheelchair. Source: sirenomelia-syndrome.blogspot.com.au Image Actual.com
STANDARD THERAPIES
Treatment
Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, orthopedists, orthopedist surgeons, kidney specialists (nephrologists) and other health care professionals may need to systematically and comprehensively plan an affected child’s treatment.
Surgery has been successful in separating joined legs. In preparation for surgery, balloon-like tissue expanders are inserted under the skin. When they are filled with a salt solution over a period of time, the balloons expand making the skin stretch and grow. The excess skin is then used to cover the legs once they are separated. Sirenomelia is usually fatal in the newborn period despite treatment.
Source: NORD (National Organization for Rare Disorders)
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STAGES OF SEPARATION PROCEDURE
Source: BBC.CO.UK
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The real life MERMAID: Heartbreaking pictures show baby born with deadly condition where legs fuse together in the womb
A baby astonished doctors in India when it was born with a rare condition known as ‘Mermaid syndrome.’
Tragically the newborn, whose legs had fused together to resemble the mythical creature, only lived for about ten minutes.
The 22-year-old mother, from Sahranpur, in Uttar Pradesh, northern India, had the baby, on Friday morning.
Dr Vandana Arya, 35, a gynaecologist at the hospital who delivered the baby, said: ‘I have never seen a case like this before.
The baby had a condition called Sirenomelia or mermaid syndrome, which is a rare congenital disorder in which the legs are fused together, with an appearance of a mermaid’s tail
‘We have seen congenital disorders amongst children born with deformities, but this was an extremely rare case.
‘The baby was born in a fish-like body, and had its hands spread like fins, which made this case even more unique.
‘The upper body of the baby was absolutely functional but the lower body was not developed.’
A large group of people gathered at at Sahi Ram Hospital for a glimpse of the remarkable newborn.
Dr Arya said the condition meant it was impossible to determine the gender of the baby.
Sirenomelia, also known as ‘Mermaid syndrome’ is a life-threatening illness, marked by the rotation and fusion of a sufferer’s legs.
The rare congenital deformity causes what looks like a single limb, resembling a fish tail, in the womb.
For centuries mermaids have occupied the world of fantasy and fairy tale with this illustration published in Hans Christian Andersen’s Fairy Tales
Medical historian Lindsey Fitzharris, who has a PhD from Oxford University, previously told MailOnline the condition occurs from a failure of the normal vascular supply, when the umbilical cord fails to form two arteries.
As a result there is not sufficient blood supply reaching the foetus, she said.
The single artery ‘steals’ the blood and nutrition from the lower body, diverting it back up into the placenta.
Suffering malnutrition, the foetus fails to develop two separate limbs.
The condition is extremely rare, affecting one in 100,000 babies, but is 100 times more likely to occur in identical twins.
Dr Fitzharris added: ‘Sirenomelia is extremely fatal.
‘There are no accounts of anyone with this condition surviving in the past.
‘Most died within days of being born due to kidney and bladder failure.
‘Even today, the odds are against those with sirenomelia, though there are a handful of examples of children living past infancy.’
In this case, the woman did not complain of any complication during her 30 week pregnancy.
However, an ultrasound during the last stages of her pregnancy revealed the baby’s kidneys had not developed.
This is the fourth case of mermaid syndrome in the world but the first case reported in India.
Dr Vandana said: ‘There are several causes of this condition like excessive medicine intake, a vitamin deficiency, genetics, past history or even maternal diabetes.
‘It also results from a failure of normal vascular supply from the lower aorta in uetro.
‘The operation in these cases is not possible due to the improper development of the body.
‘In some extreme rare cases, the kidneys can be transplanted but the survival rate is very low.’
RARE SURVIVAL OF PEOPLE BORN WITH SIRENOMELIA
In 1988 Tiffany Yorks underwent surgery to separate her legs before her first birthday.
She suffered some mobility problems, because of her fragile bones, and used crutches and a wheelchair to get around.
At the age of 27, she was the oldest known surviving sufferer of the condition until she passed away in February this year.
Another notable survivor of the rare disorder is a Peruvian girl, nicknamed the Little Mermaid.
In 2006 a team of eight specialists successfully carried out a second operation on the then two-year-old Milagros Cerron.
The youngster, whose first name means ‘miracles’ in Spanish, was born with the rare congenital disorder.
Her legs were fused from groin to ankles and her feet splayed, in the characteristic form of sirenomelia.
Most of Milagros’s internal organs, including her heart and lungs, were in perfect condition.
Milagros Cerron was dubbed ‘Little Mermaid’ because of her rare birth defect but underwent successful surgery to separate her legs
But she was born with serious internal defects, including a deformed left kidney and a very small right kidney located very low in her body.
Her digestive, urinary tracts and genitals also shared a single tube.
In June 2005 doctors successfully performed the first in a series of risky operations to separate Milagros’s lower legs, to above her knees.
The second operation was carried out to separate the remaining fused tissue, from her knees to groin.
Surgeon Luis Rubio, who led the specialists, said after the second surgery: ‘There were no problems, no complications from anaesthesia or from haemorraghing. ‘
He said Milagros had developed the ability to stand alone without help and take small assisted steps.
In 2012 the then seven-year-old required a kidney transplant, part of surgery to reconstruct her urinary tract.
Rubio said at the time that Tiffany Yorks, was the only other person known to have undergone successful surgery to correct the rare congenital defect.
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