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Sirenomelia, also called mermaid syndrome, is a rare
congenital deformity A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth de ...
in which the legs are fused together, giving the appearance of a
mermaid In folklore, a mermaid is an aquatic creature with the head and upper body of a female human and the tail of a fish. Mermaids appear in the folklore of many cultures worldwide, including Europe, Latin America, Asia, and Africa. Mermaids are ...
's tail, hence the nickname.


Classification

Sirenomelia is classified by the skeletal structure of the lower limb, ranging from class I, where all bones are present and only the soft tissues are fused, to class VII where the only bone present is a fused
femur The femur (; : femurs or femora ), or thigh bone is the only long bone, bone in the thigh — the region of the lower limb between the hip and the knee. In many quadrupeds, four-legged animals the femur is the upper bone of the hindleg. The Femo ...
. It has also been classified as an expanded part of the
VACTERL association The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome, because th ...
and as a form of
caudal regression syndrome Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare congenital disorder in which the fetal development of the lower Vertebral column, spine—the Caudal (anatomical term), caudal partition of the spine—is abno ...
.


Presentation

Sirenomelia is mainly characterized by the fusion of both legs with rotation of the
fibula The fibula (: fibulae or fibulas) or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. ...
. It may include the absence of the lower spine, as well as abnormalities of the pelvis and renal organs. It was previously thought to be a severe form of sacral agensis/caudal regression syndrome, but more recent research confirms that these two conditions are not related. In general, the more severe cases of limb fusion correlate with more severe dysplasia in the pelvis. Rather than the two iliac arteries present in fetuses with complete renal agenesis, fetuses with sirenomelia display no branching of the
abdominal aorta In human anatomy, the abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of the descending aorta (of the thorax). Structure The abdominal aorta begins at the level of the diaphragm ...
, which is always absent. Associated defects recorded in cases of sirenomelia include
neural tube defect Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo ...
s ( rachischisis,
anencephaly Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube ...
, and
spina bifida Spina bifida (SB; ; Latin for 'split spine') is a birth defect in which there is incomplete closing of the vertebral column, spine and the meninges, membranes around the spinal cord during embryonic development, early development in pregnancy. T ...
),
holoprosencephaly Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to Prenatal development, develop into two Cerebral hemisphere, hemispheres, typically occurring between the 18th and 28th day of gestati ...
,
hypoplastic left heart syndrome Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. It is estimated to account for 2-3% of all congenital hea ...
, other heart defects,
esophageal atresia Esophageal atresia is a congenital medical condition (birth defect) that affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anat ...
,
omphalocele An omphalocele or omphalocoele, also known as an exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal lo ...
,
intestinal malrotation Intestinal malrotation is a congenital anomaly of rotation of the midgut. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called volvulus, ...
,
persistent cloaca A persistent cloaca is a symptom of a complex anorectal congenital disorder, in which the rectum, vagina, and urinary tract meet and fuse, creating a cloaca, a single common channel. Signs and symptoms Cloacas appear in a wide spectrum of variati ...
, and other limb defects (most commonly absence of the radius).


Causes

The ultimate cause of sirenomelia is a subject of debate. The first hypothesis of its origin was developed in 1927 and proposed that a lack of blood supply to the lower limbs during their development is responsible for the defect. This "vascular steal" hypothesis was developed in response to the observed absence or severe underdevelopment of the aorta below the umbilical artery, which "steals" the blood supply from the lower limbs. Other hypotheses involve an insult to the embryo between 28 and 32 days affecting the caudal mesoderm, a teratogen exposure affecting the neural tube during
neurulation Neurulation refers to the folding process in vertebrate embryos, which includes the transformation of the neural plate into the neural tube. The embryo at this stage is termed the neurula. The process begins when the notochord induces the formati ...
, and a defect in the twinning process that either stops the process of caudal differentiation or generates a second
primitive streak The primitive streak is a structure that forms in the early embryo in amniotes. In amphibians, the equivalent structure is the blastopore. During early embryonic development, the embryonic disc becomes oval shaped, and then pear-shaped with the ...
. Maternal
diabetes mellitus Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained hyperglycemia, high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or th ...
has been associated with
caudal regression syndrome Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare congenital disorder in which the fetal development of the lower Vertebral column, spine—the Caudal (anatomical term), caudal partition of the spine—is abno ...
and sirenomelia, although a few sources question this association. Prenatal
cocaine Cocaine is a tropane alkaloid and central nervous system stimulant, derived primarily from the leaves of two South American coca plants, ''Erythroxylum coca'' and ''Erythroxylum novogranatense, E. novogranatense'', which are cultivated a ...
exposure has also been suggested as an association with sirenomelia.


Genetics

In animal models, several genes have been found to cause or be associated with sirenomelia. The ''srn'' (''siren'') gene is observed to cause hindlimb fusion in homozygous mice. Mice with knockouts or mutations in both '' tsg1'' and ''
bmp7 Bone morphogenetic protein 7 or BMP7 (also known as osteogenic protein-1 or OP-1) is a protein that in humans is encoded by the ''BMP7'' gene. Function The protein encoded by this gene is a member of the TGF-β superfamily. Like other members ...
'' will also have hindlimb fusion.


Diagnosis

Though obvious at birth, sirenomelia can be diagnosed as early as 14 weeks gestation on
prenatal ultrasound Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in the uterus (womb). The procedure is a stand ...
. When there is low amniotic fluid around the fetus (
oligohydramnios Oligohydramnios is a medical condition in pregnancy characterized by a deficiency of amniotic fluid, the fluid that surrounds the fetus in the abdomen, in the amniotic sac. The limiting case is anhydramnios, where there is a complete absence of ...
), the diagnosis is more difficult.


Prognosis

Sirenomelia is usually fatal. Many pregnancies with a sirenomelic fetus spontaneously
miscarry Miscarriage, also known in medical terms as a spontaneous abortion, is an end to pregnancy resulting in the loss and expulsion of an embryo or fetus from the womb before it can fetal viability, survive independently. Miscarriage before 6 weeks ...
. One-third to one-half of infants are
stillborn Stillbirth is typically defined as fetal death at or after 20 or 28 weeks of pregnancy, depending on the source. It results in a baby born without signs of life. A stillbirth can often result in the feeling of guilt or grief in the mother. T ...
, with all but a few dying in the neonatal period. In cases of
monoamniotic twins Monoamniotic twins are identical or semi-identical twins that share the same amniotic sac within their mother's uterus. Monoamniotic twins are always monochorionic and are usually termed Monoamniotic-Monochorionic ("MoMo" or "Mono Mono") twins. ...
where one is affected, the twin with sirenomelia is protected from
Potter sequence Potter sequence is the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus. It includes clubbed feet, pulmonary hypoplasia and cranial anomalies related to the oligohydramnios. Oligohydramnios is the decr ...
(particularly
pulmonary hypoplasia Pulmonary hypoplasia is an incomplete development of the lungs, resulting in an abnormally low number or small size of bronchopulmonary segments or alveoli. A congenital malformation, most often occurs secondary to other fetal abnormalities tha ...
and abnormal facies) by the normal twin's production of amniotic fluid.


Epidemiology

This condition is found in approximately one out of every 100,000 live births; studies produce rates from 1 in 68,741 to 1 in 97,807. It is 100 to 150 times more likely in identical (monozygotic) twins than in singletons or fraternal twins. Sirenomelia is not associated with any ethnic background, but fetuses with sirenomelia are more likely to be male.


Etymology

The word ''sirenomelia'' derives from the ancient Greek word ''seirēn,'' referring to the mythological
Sirens Siren or sirens may refer to: Common meanings * Siren (alarm), a loud acoustic alarm used to alert people to emergencies * Siren (mythology), an enchanting but dangerous monster in Greek mythology that lured sailors to their deaths. Places * Si ...
, who were sometimes depicted as mermaids, and ''melos'', meaning "limb".


History

Sirenomelia was first reported in 1542. In 1927, Otto Kampmeier discovered the association between sirenomelia and
single umbilical artery Occasionally, during pregnancy, there is a single umbilical artery (SUA) present in the umbilical cord, as opposed to the usual two. This is sometimes also called a two-vessel umbilical cord, or two-vessel cord. Approximately, this affects between ...
.


Notable individuals

Only a few individuals who had some functioning kidney tissues have survived the neonatal period.


Tiffany Yorks

Tiffany Yorks of
Clearwater, Florida Clearwater is a city and the county seat of Pinellas County, Florida, United States, west of Tampa, Florida, Tampa and north of St. Petersburg, Florida, St. Petersburg. To the west of Clearwater lies the Gulf of Mexico and to the southeast lies T ...
(May 7, 1988 – February 24, 2016) underwent successful
surgery Surgery is a medical specialty that uses manual and instrumental techniques to diagnose or treat pathological conditions (e.g., trauma, disease, injury, malignancy), to alter bodily functions (e.g., malabsorption created by bariatric surgery s ...
in order to separate her legs before she was a year old. She was the longest-surviving sirenomelia patient to date. She had 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 Pepin

Shiloh Jade Pepin (August 4, 1999 – October 23, 2009) was born in
Kennebunkport, Maine Kennebunkport is a resort town in York County, Maine, United States. The population was 3,629 people at the 2020 census. It is part of the Portland-South Portland-Biddeford metropolitan area. The town center, the area in and around Dock Squa ...
,
United States The United States of America (USA), also known as the United States (U.S.) or America, is a country primarily located in North America. It is a federal republic of 50 U.S. state, states and a federal capital district, Washington, D.C. The 48 ...
with her lower extremities fused, no
bladder The bladder () is a hollow organ in humans and other vertebrates that stores urine from the kidneys. In placental mammals, urine enters the bladder via the ureters and exits via the urethra during urination. In humans, the bladder is a distens ...
, no
uterus The uterus (from Latin ''uterus'', : uteri or uteruses) or womb () is the hollow organ, organ in the reproductive system of most female mammals, including humans, that accommodates the embryonic development, embryonic and prenatal development, f ...
, no
rectum The rectum (: rectums or recta) is the final straight portion of the large intestine in humans and some other mammals, and the gut in others. Before expulsion through the anus or cloaca, the rectum stores the feces temporarily. The adult ...
, only 6 inches of
large intestine The large intestine, also known as the large bowel, is the last part of the gastrointestinal tract and of the Digestion, digestive system in tetrapods. Water is absorbed here and the remaining waste material is stored in the rectum as feces befor ...
, no
vagina In mammals and other animals, the vagina (: vaginas or vaginae) is the elastic, muscular sex organ, reproductive organ of the female genital tract. In humans, it extends from the vulval vestibule to the cervix (neck of the uterus). The #Vag ...
, only one quarter of a
kidney In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organ (anatomy), organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and rig ...
and one
ovary The ovary () is a gonad in the female reproductive system that produces ova; when released, an ovum travels through the fallopian tube/ oviduct into the uterus. There is an ovary on the left and the right side of the body. The ovaries are end ...
. Her parents initially anticipated she could expect only a few months of life. At age 4 months, her natural kidney failed, and she began
dialysis Dialysis may refer to: * Dialysis (chemistry), a process of separating molecules in solution **Electrodialysis, used to transport salt ions from one solution to another through an ion-exchange membrane under the influence of an applied electric po ...
. A
kidney transplant Kidney transplant or renal transplant is the organ transplant of a kidney into a patient with end-stage kidney disease (ESRD). Kidney transplant is typically classified as deceased-donor (formerly known as cadaveric) or living-donor transplantat ...
at age 2 lasted a number of years, and in 2007 a second kidney transplant was successful. She attended Consolidated
Elementary School A primary school (in Ireland, India, the United Kingdom, Australia, New Zealand, Trinidad and Tobago, Jamaica, South Africa, and Singapore), elementary school, or grade school (in North America and the Philippines) is a school for primary ...
. She remained hopeful about her disease and joked often and lived her life happily, despite her challenges, as seen in her
TLC TLC may refer to: Arts and entertainment Television * ''TLC'' (TV series), a 2002 British situational comedy television series that aired on BBC2 * TLC (TV network), formerly the Learning Channel, an American cable TV network ** TLC (Asia), an A ...
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 undergo surgery when they are young, but Shiloh was already 8 years old in the documentary and had not undergone surgery. Shiloh was the only one of the three survivors of sirenomelia without surgery for separation of the conjoined legs. She died of
pneumonia Pneumonia is an Inflammation, inflammatory condition of the lung primarily affecting the small air sacs known as Pulmonary alveolus, alveoli. Symptoms typically include some combination of Cough#Classification, productive or dry cough, ches ...
on October 23, 2009, at
Maine Medical Center MaineHealth Maine Medical Center Portland (MMCP), commonly contracted to Maine Med, is a 929-licensed-bed teaching hospital in Portland, Maine, United States. Affiliated with Tufts University School of Medicine, it is located in the Western P ...
in
Portland, Maine Portland is the List of municipalities in Maine, most populous city in the U.S. state of Maine and the county seat, seat of Cumberland County, Maine, Cumberland County. Portland's population was 68,408 at the 2020 census. The Portland metropolit ...
, at the age of 10; having appeared on the ''
Oprah Winfrey Show ''The Oprah Winfrey Show'' is an American first-run syndicated talk show that was hosted by Oprah Winfrey. The show ran for twenty-five seasons from September 8, 1986, to May 25, 2011, in which it broadcast 4,561 episodes. The show was taped i ...
'' on September 22, 2009. Shiloh gained a following of admirers by documenting her condition on TV,
Facebook Facebook is a social media and social networking service owned by the American technology conglomerate Meta Platforms, Meta. Created in 2004 by Mark Zuckerberg with four other Harvard College students and roommates, Eduardo Saverin, Andre ...
, and the
Internet The Internet (or internet) is the Global network, global system of interconnected computer networks that uses the Internet protocol suite (TCP/IP) to communicate between networks and devices. It is a internetworking, network of networks ...
.


Milagros Cerrón

Milagros Cerrón Arauco (April 27, 2004 – October 24, 2019) was born in
Huancayo Huancayo (; in , '(place) with a (sacred) rock', ) is the capital of the Junín Region and Huancayo Province, in the central highlands of Peru, in the Mantaro Valley and is crossed by the Shullcas, Chilca and Mantaro rivers. It was founded as a ...
,
Peru Peru, officially the Republic of Peru, is a country in western South America. It is bordered in the north by Ecuador and Colombia, in the east by Brazil, in the southeast by Bolivia, in the south by Chile, and in the south and west by the Pac ...
. Although most of Milagros' internal organs, including her heart and lungs, were in perfect condition, she was born with serious internal defects, including a deformed left
kidney In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organ (anatomy), organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and rig ...
and a very small right one located very low in her body. In addition, her digestive,
urinary tract The human urinary system, also known as the urinary tract or renal system, consists of the kidneys, ureters, bladder, and the urethra. The purpose of the urinary system is to eliminate waste from the body, regulate blood volume and blood pressu ...
s and
genitals A sex organ, also known as a reproductive organ, is a part of an organism that is involved in sexual reproduction. Sex organs constitute the primary sex characteristics of an organism. Sex organs are responsible for producing and transporting ...
shared a single tube. This birth defect occurs during the gastrulation week (week 3) of embryonic development. Gastrulation establishes the three germ layers:
ectoderm The ectoderm is one of the three primary germ layers formed in early embryonic development. It is the outermost layer, and is superficial to the mesoderm (the middle layer) and endoderm (the innermost layer). It emerges and originates from the o ...
, mesoderm and
endoderm Endoderm is the innermost of the three primary germ layers in the very early embryo. The other two layers are the ectoderm (outside layer) and mesoderm (middle layer). Cells migrating inward along the archenteron form the inner layer of the gastr ...
. 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 is a district located in Lima, Peru. The district 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. Name origin In times past, this p ...
in
Lima Lima ( ; ), founded in 1535 as the Ciudad de los Reyes (, Spanish for "City of Biblical Magi, Kings"), is the capital and largest city of Peru. It is located in the valleys of the Chillón River, Chillón, Rímac River, Rímac and Lurín Rive ...
. The procedure, however, was so intensive that she became
traumatized Psychological trauma (also known as mental trauma, psychiatric trauma, emotional damage, or psychotrauma) is an emotional response caused by severe distressing events, such as bodily injury, sexual violence, or other threats to the life of the ...
to the degree of losing her ability to form proper speech patterns, leaving her nearly mute. It is not known if this was a
physiological Physiology (; ) is the science, scientific study of function (biology), functions and mechanism (biology), mechanisms in a life, living system. As a branches of science, subdiscipline of biology, physiology focuses on how organisms, organ syst ...
or
psychological Psychology is the scientific study of mind and behavior. Its subject matter includes the behavior of humans and nonhumans, both consciousness, conscious and Unconscious mind, unconscious phenomena, and mental processes such as thoughts, feel ...
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 reconstructive surgery to rebuild her rudimentary
anus In mammals, invertebrates and most fish, the anus (: anuses or ani; from Latin, 'ring' or 'circle') is the external body orifice at the ''exit'' end of the digestive tract (bowel), i.e. the opposite end from the mouth. Its function is to facil ...
,
urethra The urethra (: urethras or urethrae) is the tube that connects the urinary bladder to the urinary meatus, through which Placentalia, placental mammals Urination, urinate and Ejaculation, ejaculate. The external urethral sphincter is a striated ...
and genitalia. Milagros' parents are from a poor village in Peru's
Andes Mountains The Andes ( ), Andes Mountains or Andean Mountain Range (; ) are the longest continental mountain range in the world, forming a continuous highland along the western edge of South America. The range is long and wide (widest between 18°S ...
; the Solidarity Hospital had given a job to her father Ricardo Cerrón so that the family could remain in
Lima Lima ( ; ), founded in 1535 as the Ciudad de los Reyes (, Spanish for "City of Biblical Magi, Kings"), is the capital and largest city of Peru. It is located in the valleys of the Chillón River, Chillón, Rímac River, Rímac and Lurín Rive ...
, while the City of Lima pledged to pay for many of the operations. She died on October 24, 2019, at the age of 15.


References

{{Phakomatoses and other congenital malformations not elsewhere classified Congenital disorders Rare diseases Mermaids