The amazing story of a mermaid girl. Mermaid syndrome (sirenomelia): causes, symptoms, treatment Known patients with mermaid syndrome
Mermaid syndrome (sirenomelia) is a rare congenital disorder. Due to the fact that the newborn's legs are fused, he resembles a mermaid. Forecasts for this anomaly, unfortunately, are disappointing. It is impossible to cure the disease! In addition to the fact that soft tissues and bones grow together, the bladder, rectum, and sacrum may be absent. Sometimes there are no internal or external genitalia at all, renal adgenesis is observed, and the functioning of the stomach and intestines is disrupted. As a rule, a newborn with the syndrome has only one instead of two umbilical arteries; hypoplasia of the aorta is also observed, but the renal arteries are completely absent. As a result, the blood supply is disrupted and the child dies. What leads to such a pathology? Why does it occur?
Main reasons
Medical scientists are still studying why the anomaly develops. To date, the following theories have been put forward:
- Genetic abnormalities in parents.
- Serious illness in a pregnant woman.
- Drug abuse, .
- Insufficient intrauterine blood supply.
- Polluted ecology.
- in a pregnant woman.
Scientists believe that several factors lead to pathology. A number of recent studies have shown that mermaid syndrome is in no way associated with chromosomal abnormalities. The defect can develop in the first month of pregnancy as a result of vascular disorders. Experiments were conducted on animals, it turned out that pathology can appear due to:
- Vitamin A deficiency.
- Taking sulfonamides, retinoic acid, cadmium during pregnancy.
Degrees of development of mermaid syndrome
Lighter
In this case, there is a fusion of the soft tissues of the legs. The lower limbs are anchored at the ankles or completely, with the main bones of the legs fully developed. If the operation is performed in a timely manner, you can quickly get rid of the leg defect. To identify associated injuries, X-rays are used and many analyzes and tests are performed.
Severe form
The deformation is too advanced. The legs are completely fused and absolutely not developed. In this case, there is no structure of the foot, and there are no more than two bones on the lower limb. This pathology is noticed in utero, already at 12 weeks. An ultrasound shows that the woman has no kidneys in her baby and a serious defect in her legs. As a rule, when a diagnosis of “sirenomelia” is made, an abortion is prescribed. A child has virtually no chance of surviving with such an anomaly. Only a large number of operations can help. In this case, in addition to separating the legs, an organ transplant is required. According to statistics, a mermaid child is born very rarely; most often it dies during pregnancy or childbirth, only 40% remain alive for a few days. This can be explained by serious organ abnormalities - there is no bladder, it develops.
Life stories
Despite the severe pathology, several patients managed to live for several years.
The Story of Shiloh Pepin
In 1999, Shiloh Pepin was born in America. Instead of legs, she had a tiny mermaid tail, and there was no bladder, uterus, rectum, or genitals. The parents were already preparing for the worst, but did not stop believing in a miracle. Doctors managed to save the girl's life. She survived many operations, but was a normal, mentally developed child. In addition, the girl always smiled, loved life, and told journalists about nature. Most of all, Shiloh loved butterflies and drew them. Despite her difficult fate, the girl remained kind, always dressed brightly, and was not afraid of trips to the hospital. In addition, Shiloh began to dance a little. But, unfortunately, 2 months after she celebrated her 10th birthday, the girl became seriously ill. This time a miracle did not happen; Shiloh died from.
History of Milagros Cerrón
Milagros Cerrón was born in 2004 in Peru. She suffered from kidney pathology and had problems with the digestive tract and urinary organs. At the age of 2, she underwent surgery during which her limbs were separated. A few weeks later, an operation was performed, during which the internal organs were restored.
The Story of Tiffany Yorks
Tiffany Yorks was born in America in 1988 and is considered the oldest “mermaid”. The girl is still alive. First, she underwent an operation, during which her legs were separated and the function of her organs was restored. Tiffany was lucky; all operations were successful. But her legs are still weak, so the girl uses a wheelchair.
Recent Event
In 2016, a mermaid baby appeared in India. The 22-year-old mother was shocked. Unfortunately, the child was able to live only 10 minutes. Due to the anomaly, it was impossible to know the sex of the newborn.
Diagnosis and prognosis
The defect is immediately visible. A tail instead of legs is the first sign of sirenomelia. Then the doctor conducts a comprehensive diagnosis of the organs, most often detecting pulmonary hypoplasia, absence of genitourinary organs, and hypoplasia of the caudal vertebral region. Some children have normally formed feet, while others have no feet at all. Almost all patients lack genitals, anus, and it is also observed.
It is important that the anomaly is identified during pregnancy, then it will be possible to save the baby and mother from suffering. As a rule, everything is clearly visible at screening, which is carried out at 12 weeks.
So, sirenomelia is a pathology that terrifies. Many traditional healers are sure that a child is born a mermaid because his mother is cursed. From a scientific point of view, scientists are trying to explain the anomaly. To avoid various pathologies in the fetus, it is necessary to follow the basic recommendations of the doctor, in no case get carried away with narcotic substances or potent medications, and do not refuse to take tests and all necessary examinations. In case of an infectious disease, consult a doctor immediately!
Given disease is a congenital pathology that occurs as a result of impaired blood supply and is characterized by fusion of the lower extremities in combination with renal agenesis, aplasia of the sacrum, rectum and bladder. Previously it was believed that this pathology represents a severe form of caudal regression syndrome.
Synonyms. Mermaid syndrome and sirenomelia syndrome.
Etiology. Although the etiology is unknown, sirenomelia is not considered a hereditary disorder.
Risk of relapse. Unknown.
Diagnostics. The diagnosis of sirenomelia is based on the identification of fused lower extremities in combination with other skeletal deformities, including the lumbar spine, as well as bilateral renal agenesis (which leads to absolute oligohydramnios and pulmonary hypoplasia), with malformations of the heart and anterior abdominal wall. The severity of the underlying defect varies from simple skin fusion of the lower extremities to aplasia of all long tubular bones with the exception of the femur. The degree of abnormal development of the feet is proportional to the severity of the pathology of the development of long tubular bones.
Wherein usually a cutaneous form of the defect manifests itself as a double fused foot with 10 toes, and more severe forms are characterized by the formation of vestigial feet or ectromelia. Since the lower limbs are fused to each other, their full movements are absent and after childbirth they remain in the position they had in the antenatal period. In this case, the fibula, if any, are located between the tibia, and the only “leg” is oriented ventrally, rather than dorsally.
Pathogenesis. Violations of vascular development in the early stages of embryonic development lead to the “vitellinic arterial steal” syndrome, in which blood flow is redirected from the caudal parts of the embryo to the chorion, which leads to the formation of multiple defects of the lower extremities. Most of these fetuses have aberrant collateral vascularization, with the umbilical cord arteries connecting to the former vitellinian arteries (superior mesenteric arteries).
Genetic disorders. Unknown.
Combined anomalies. Defects of the heart, kidneys, anterior abdominal wall, chest and lower spine are often observed. A single umbilical artery, imperforate anus, and genital agenesis are also common findings.
Differential diagnosis. Caudal regression syndrome is the main differential diagnosis and usually manifests itself with deformations less pronounced than with sirenomelia, in addition, in these cases there is a normal amount of amniotic fluid. Fetuses with sirenomelia often have the facial appearance characteristic of Potter syndrome, which is caused by bilateral renal agenesis. The fusion of the lower extremities found in sirenomelia allows the correct diagnosis to be made. Other diseases that should be excluded are Fraser syndrome and VACTERL association.
Forecast. This disease is fatal due to its combination with renal agenesis. In exceptional cases, if renal agenesis is absent, the individual may survive.
Mermaids are a famous character in world folklore and literature. This image is usually associated with shipwrecks, drownings and floods.
But few people know that mermaids exist in reality. At least in medicine, cases of the so-called “mermaid syndrome” have been recorded. This is a deadly abnormality characterized by twisted and fused legs.
This is a rare congenital deformity - 1 case in 100,000 children. It is 100 times more common in identical twins. Because of it, one gets the impression that a person has not two legs, but one tail. It is known that the cause of the disorder is abnormalities in the vascular network that provides blood flow. The umbilical cord does not form two arteries. As a result, the fetus does not receive enough blood. The lower body lacks blood and nutrients. Thus, two limbs simply cannot form.
More than 50% of children with this disorder die in the womb. Most of those born alive do not survive more than a few days due to a kidney or bladder abnormality. However, there are also known exceptions to the rules.
For example, in 1988, Tiffany Yorks underwent leg separation surgery. This happened when she was not yet a year old. She is still alive, although she has problems with mobility (her bones have not strengthened). This is the oldest patient with mermaid syndrome.
Tiffany Yorks
Mermaid Syndrome(sirenomelia: lat. sirenomelia; ancient Greek - siren + - part of the body, limb) is an extremely severe form of the syndrome caudal regression, which, in turn, is a rare severe congenital malformation of the distal spine and spinal cord (its clinical picture of the disease is accompanied by hypoplasia of the lower half of the trunk and limbs).
The pathognomonic sign of this anomaly, first described in 1961 by Duhamel, is merger lower extremities. Fusion may be bone or within soft tissue. In most cases of sirenomelia, renal agenesis, a blind-ending colon, absence of external and internal genitalia, a single umbilical artery, and anal atresia are observed.
The incidence of this defect is 1 in 60 thousand newborns. The sex ratio is m2.7:w1. The mode of inheritance is presumably autosomal dominant. Due to the birth defects (listed above), sirenomelia is almost always a fatal disease. Approximately 50% of infants with this diagnosis are stillborn (the baby died before or during birth), and 50% are live born. However, babies born alive, as a rule, die quickly: after a few minutes or after a couple of days, rarely - several months.
BUT! On April 7, 2004, a girl named Milagros Cerron (Cerron) was born in Peru with mermaid syndrome. In addition, her kidneys, digestive, urinary and genital organs were developed with significant deviations from the norm. Usually children with such a serious illness die on the second day after birth, but Milagros became the second child who remained alive despite the most dangerous disease. In 2005 - 2006, surgeons accomplished the impossible by separating her fused limbs so that the girl was eventually able to walk like her peers. To do this, we first had to implant silicone inserts between the limbs to stretch the skin of the legs, and then cut them, separate the vessels and then sew up the girl’s legs with the resulting flaps of skin. The operation was successful, and within a few weeks Milagros was able to take her first steps. But this was only the beginning, since she still had to undergo operations on internal organs and long-term rehabilitation. The second child to survive Sirenomelia is Tiffany Yorks, who underwent all the same operations as Milagros Cerron.
Etiology sirenomelia (caudal regression syndrome) has not been fully elucidated. Most authors consider diabetes mellitus in mothers, genetic predisposition and insufficient blood supply to the lower half of the fetal body as causal factors in the genesis of this pathology - it has been established that in fetuses with this pathology, blood is shunted through an abnormal vessel into the placenta, without providing blood supply to the caudal structures.
A normal fetus develops two umbilical arteries, which pump blood from the fetus to the placenta, and one umbilical vein, which returns blood from the placenta to the fetus. Most babies with mermaid syndrome have only one umbilical artery and one vein. Rarely, fetuses with this syndrome develop two typical arteries and one vein. With sirenomelia, one functional artery is larger than normal, it branches from the aorta high in the abdomen. In this case, the aorta becomes abnormally narrow. Due to the fact that nutritional elements are not supplied to the lower extremities and there is no normal blood flow in them, they do not form as separate extremities, kidneys also do not form, the large intestine ends blindly in the abdominal cavity, internal and external genitalia with such disorders are absent or develop with deviations. At present, scientists have not yet established why a single umbilical artery can cause such changes.
An American girl born with a very rare disease - sirenomelia, "mermaid syndrome", that is, with fused legs.
Shiloh Pepin was born in 1999 in the American state of Maine (Kennebunkport, Maine). When the baby was born, it became obvious that the child was not quite ordinary - instead of legs, the girl had something that resembled a mermaid’s tail. This disease is called mermaid syndrome, sirenomelia, and this disease is not so much rare as it is fatal. Thus, there are only a few babies in the world who were born with this disease and survived. And Shiloh became one of them, despite all the unfavorable forecasts of doctors. Moreover, Shiloh Pepin became the only girl in the world with mermaid syndrome who lived to be 10 years old. But in general, the history of medicine described no more than a dozen cases in which children in a similar condition survived.
Alas, at the age of 10, little Shiloh Pepin passed away. By that time, her parents already believed that the worst was over, and nothing bad could happen to their daughter...
So the mermaid girl Shiloh Pepin was born with legs that resembled the tail of a tiny mermaid, she had no bladder, rectum, uterus, genitals, and instead of two kidneys she had only a quarter of one.
Despite the fact that Shiloh's parents were prepared for the worst, they still believed in a miracle. And a miracle happened, with the help of doctors who literally “pulled” Shiloh out. So, she first survived the few days that had been predicted for her, then months, and then years. The girl went through several operations, including a kidney transplant, and her mental development could be the envy of ordinary healthy children.
Several documentaries have been made about Shiloh - from them you can see what a sweet and cheerful girl she was. She willingly shared with journalists her thoughts about herself, about the world around her, about God and about everything that occupied her then.
She loved beautiful clothes, and every day of the week she asked her mother to dress her in different colors so that it would look like a rainbow. And little Shiloh adored butterflies - so, butterflies caused her real delight, and it didn’t matter whether they were real or just drawn.
Already at the age of 8, she could talk about her condition in a completely adult way. So, she willingly explained to journalists what sirenomelia is, how and why it happens. The girl's father, Elmer, who left his job to care for his daughter himself, said that Shiloh had every reason to be offended by fate, but she never did it. On the contrary, she always tried to show people that her illness was nothing to worry about.
Best of the day
She surprisingly endured constant trips to the hospital, tedious medical tests, and operations. Nothing, it seemed, could break the love of life of the little mermaid girl.
She laughed willingly, adored her parents, loved to cuddle with her mother, made touching gifts for the holidays and decorated her room with her favorite butterflies. When doctors suggested that the baby go on a diet, she agreed and, suffering, gave up her favorite sweets and switched to vegetables. Shiloh Pepin was an amazingly intelligent girl.
She could swim, she could do push-ups, she could even dance, and the mermaid girl celebrated her 10th birthday in the pool.
Two months after celebrating her birthday, Shiloh fell ill. She desperately needed another miracle, like she had at birth, but, alas, this miracle did not happen.
Shiloh Pepin died of pneumonia, despite all the efforts of doctors, it was not possible to save the child.