Diprosopus
Encyclopedia
Diprosopus also known as craniofacial duplication (cranio- from Greek , "skull", the other parts Latin), is an extremely rare congenital disorder
whereby part or all of the face is duplicated on the head.
(SHH). (The unlikely-sounding name of this protein was inspired by the Sonic the Hedgehog
videogame character and is part of an idiosyncratic naming tradition in molecular biology research that some have criticized as frivolous.)
The SHH protein and its corresponding gene have been found to play an important role in signaling craniofacial patterning during embryonic development. Among other things, the SHH protein governs the width of facial features. In excess it leads to widening of facial features and to duplication of facial structures. The greater the widening, the more of the structures are duplicated, often in a mirror image form. This has been demonstrated in the laboratory by introducing pellets of the SHH protein into chicken embryos, resulting in chickens with duplicate beaks. Insufficient amounts of that protein lead to opposite conditions such as cyclopia
where facial features are insufficiently developed.
Healthy brain development is also dependent on the signaling function of the SHH protein. During embryonic development, the SHH protein directs embryonic cells to organize in specific areas that later become specialized neural tissues, thus controlling the size and shape of brain structures.
s, particularly anencephaly
, neural tube defect
and cardiac malformations. When present, the brain may show abnormalities ranging from partial to complete duplication of brain structures, and/or underdevelopment of brain tissues.
Few two-faced animals have survived due to associated internal organ abnormalities and brain abnormalities. One of the most famous was Ditto the pig. Ditto was raised to adulthood, but died of pneumonia
caused by food inhalation when breathing through one muzzle while eating with the other.
Cats with the condition are known as 'Janus
cats', after the Roman god. In July 2006, a 6-year-old male Janus cat called "Frank and Louie" from Millbury
, Massachusetts USA received publicity. In his case, only one esophagus
(and possibly only one trachea
) was functional and this aided survival. In September 2011, when Frank and Louie was 12 years old, it was announced that he will appear in the 2012 Guinness Book of World Records as the longest-surviving Janus cat on record.
Most human infants with diprosopus are stillborn. Known instances of humans with diprosopus surviving for longer than minutes to hours past birth are very rare; only a few are recorded. In 2002 and 2003, two living male infants with partial diprosopus were described in the medical literature in separate case reports. One infant was born with duplication of the nose and the cerebral frontal lobes, two widely spaced eyes, a small, underdeveloped central eye socket, and a large, asymmetric mouth. The other infant was born with duplication of the upper and lower jaw, two tongues ending in the same base, cleft palate, a slightly divided tip of the nose, and two widely spaced eyes, as well as absence of the corpus callosum
, duplication of the pituitary gland and stalk, and abnormalities in the midbrain. Because they were born with a milder, partial form of diprosopus, both infants were considered candidates for surgical correction of their abnormal facial features.
; the birth was delayed by dystocia
caused by her large head, and she was born in a hospital with an episiotomy
. She was one of the very few infants with diprosopus to survive well past birth. She may have been the only known living individual with complete facial duplication. Her facial features included two pairs of eyes, two noses, and two mouths (but only one pair of ears). Lali Singh, daughter of Sushma and Vinod Singh, lived in the Indian village of Saini Sunpura. There, she was seen as the reincarnation of the goddess Durga
, who has three eyes. It was also thought that Lali was an incarnation of the Hindu god Ganesh.
As of April 2008, Sushma and Vinod Singh had declined an offer from local doctors to evaluate their daughter through CT or MRI
scanning. Without diagnostic imaging, it was not possible to know the full extent to which the child's condition might have affected her brain and other vital structures in her head and neck. Thus, any estimation of her ability to survive or even thrive could only be speculative, though Lali's family described her as functioning normally. It is also unknown whether neurosurgeons or craniofacial surgeons, if consulted, would have had feasible solutions to offer with respect to corrective surgery. A local doctor told reporters that the baby should be considered a healthy child who currently was living a normal life, a previously unknown occurrence among sufferers of the disorder.
Lali's two middle eyes suffered from corneal opacity due to abnormal anatomy of the facial muscles, which prevented her from properly closing those eyes. (Before, it was wrongly blamed on camera flashes.)
Cleft palate caused difficulty feeding her under village conditions. A poor diet of bottle-fed sugar solution and diluted milk, allowed to drip down her throat because she could not suck properly because of the cleft palate, weakened her condition, and vomiting and infection started. Admission to hospital was delayed by discussion (including taking her back home from hospital) among her extended family
and her village's headman
. Finally her parents, alarmed at her illness and dehydration
, defied her other relatives and took her back to hospital, where under proper medical treatment including antibiotic
and a saline drip she started to improve, and stopped vomiting, and started drinking milk and defecating normally; but 6 hours later, at two months old to the day, she died of a heart attack. She was buried in her village, as is usual in Hinduism with children who die very young. Later a temple
was built at the village in her memory.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
whereby part or all of the face is duplicated on the head.
Development
Although classically considered conjoined twinning (which it resembles), this anomaly is not normally due to the fusion or incomplete separation of two embryos. It is the result of a protein called sonic hedgehog homologSonic hedgehog
Sonic hedgehog homolog is one of three proteins in the mammalian signaling pathway family called hedgehog, the others being desert hedgehog and Indian hedgehog . SHH is the best studied ligand of the hedgehog signaling pathway. It plays a key role in regulating vertebrate organogenesis, such as...
(SHH). (The unlikely-sounding name of this protein was inspired by the Sonic the Hedgehog
Sonic the Hedgehog (character)
, trademarked Sonic The Hedgehog, is a video game character and the main protagonist of the Sonic video game series released by Sega, as well as in numerous spin-off comics, cartoons, and a feature film. The first game was released on June 23, 1991, to provide Sega with a mascot to rival Nintendo's...
videogame character and is part of an idiosyncratic naming tradition in molecular biology research that some have criticized as frivolous.)
The SHH protein and its corresponding gene have been found to play an important role in signaling craniofacial patterning during embryonic development. Among other things, the SHH protein governs the width of facial features. In excess it leads to widening of facial features and to duplication of facial structures. The greater the widening, the more of the structures are duplicated, often in a mirror image form. This has been demonstrated in the laboratory by introducing pellets of the SHH protein into chicken embryos, resulting in chickens with duplicate beaks. Insufficient amounts of that protein lead to opposite conditions such as cyclopia
Cyclopia
Cyclopia is a rare form of holoprosencephaly and is a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities...
where facial features are insufficiently developed.
Healthy brain development is also dependent on the signaling function of the SHH protein. During embryonic development, the SHH protein directs embryonic cells to organize in specific areas that later become specialized neural tissues, thus controlling the size and shape of brain structures.
Occurrences
Diprosopus often occurs in combination with other congenital disorderCongenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
s, particularly anencephaly
Anencephaly
Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp...
, neural tube defect
Neural tube
In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord...
and cardiac malformations. When present, the brain may show abnormalities ranging from partial to complete duplication of brain structures, and/or underdevelopment of brain tissues.
Few two-faced animals have survived due to associated internal organ abnormalities and brain abnormalities. One of the most famous was Ditto the pig. Ditto was raised to adulthood, but died 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...
caused by food inhalation when breathing through one muzzle while eating with the other.
Cats with the condition are known as 'Janus
Janus
-General:*Janus , the two-faced Roman god of gates, doors, doorways, beginnings, and endings*Janus , a moon of Saturn*Janus Patera, a shallow volcanic crater on Io, a moon of Jupiter...
cats', after the Roman god. In July 2006, a 6-year-old male Janus cat called "Frank and Louie" from Millbury
Millbury
Millbury may refer to a location in the United States:* Millbury, Massachusetts* Millbury, Ohio...
, Massachusetts USA received publicity. In his case, only one esophagus
Esophagus
The esophagus is an organ in vertebrates which consists of a muscular tube through which food passes from the pharynx to the stomach. During swallowing, food passes from the mouth through the pharynx into the esophagus and travels via peristalsis to the stomach...
(and possibly only one trachea
Vertebrate trachea
In tetrapod anatomy the trachea, or windpipe, is a tube that connects the pharynx or larynx to the lungs, allowing the passage of air. It is lined with pseudostratified ciliated columnar epithelium cells with goblet cells that produce mucus...
) was functional and this aided survival. In September 2011, when Frank and Louie was 12 years old, it was announced that he will appear in the 2012 Guinness Book of World Records as the longest-surviving Janus cat on record.
Most human infants with diprosopus are stillborn. Known instances of humans with diprosopus surviving for longer than minutes to hours past birth are very rare; only a few are recorded. In 2002 and 2003, two living male infants with partial diprosopus were described in the medical literature in separate case reports. One infant was born with duplication of the nose and the cerebral frontal lobes, two widely spaced eyes, a small, underdeveloped central eye socket, and a large, asymmetric mouth. The other infant was born with duplication of the upper and lower jaw, two tongues ending in the same base, cleft palate, a slightly divided tip of the nose, and two widely spaced eyes, as well as absence of the corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...
, duplication of the pituitary gland and stalk, and abnormalities in the midbrain. Because they were born with a milder, partial form of diprosopus, both infants were considered candidates for surgical correction of their abnormal facial features.
Lali Singh
In 2008, a baby girl born in India, Lali Singh, became the most recently known person to have the condition diprosopus. She was born March 10, 2008 in Sanai Sampūra village near DelhiDelhi
Delhi , officially National Capital Territory of Delhi , is the largest metropolis by area and the second-largest by population in India, next to Mumbai. It is the eighth largest metropolis in the world by population with 16,753,265 inhabitants in the Territory at the 2011 Census...
; the birth was delayed by dystocia
Dystocia
Dystocia is an abnormal or difficult childbirth or labour. Approximately one fifth of human labours have dystocia.Dystocia may arise due to incoordinate uterine activity, abnormal fetal lie or presentation, absolute or relative cephalopelvic disproportion, or a massive fetal tumor such as a...
caused by her large head, and she was born in a hospital with an episiotomy
Episiotomy
An episiotomy , also known as perineotomy, is a surgically planned incision on the perineum and the posterior vaginal wall during second stage of labor. The incision, which can be midline or at an angle from the posterior end of the vulva, is performed under local anaesthetic , and is sutured...
. She was one of the very few infants with diprosopus to survive well past birth. She may have been the only known living individual with complete facial duplication. Her facial features included two pairs of eyes, two noses, and two mouths (but only one pair of ears). Lali Singh, daughter of Sushma and Vinod Singh, lived in the Indian village of Saini Sunpura. There, she was seen as the reincarnation of the goddess Durga
Durga
For the 1985 Hindi Film of Rajesh Khanna see DurgaaIn Hinduism, Durga ; ; meaning "the inaccessible" or "the invincible"; , durga) or Maa Durga "one who can redeem in situations of utmost distress" is a form of Devi, the supremely radiant goddess, depicted as having eighteen arms, riding a lion...
, who has three eyes. It was also thought that Lali was an incarnation of the Hindu god Ganesh.
As of April 2008, Sushma and Vinod Singh had declined an offer from local doctors to evaluate their daughter through CT or MRI
Magnetic resonance imaging
Magnetic resonance imaging , nuclear magnetic resonance imaging , or magnetic resonance tomography is a medical imaging technique used in radiology to visualize detailed internal structures...
scanning. Without diagnostic imaging, it was not possible to know the full extent to which the child's condition might have affected her brain and other vital structures in her head and neck. Thus, any estimation of her ability to survive or even thrive could only be speculative, though Lali's family described her as functioning normally. It is also unknown whether neurosurgeons or craniofacial surgeons, if consulted, would have had feasible solutions to offer with respect to corrective surgery. A local doctor told reporters that the baby should be considered a healthy child who currently was living a normal life, a previously unknown occurrence among sufferers of the disorder.
Lali's two middle eyes suffered from corneal opacity due to abnormal anatomy of the facial muscles, which prevented her from properly closing those eyes. (Before, it was wrongly blamed on camera flashes.)
Cleft palate caused difficulty feeding her under village conditions. A poor diet of bottle-fed sugar solution and diluted milk, allowed to drip down her throat because she could not suck properly because of the cleft palate, weakened her condition, and vomiting and infection started. Admission to hospital was delayed by discussion (including taking her back home from hospital) among her extended family
Extended family
The term extended family has several distinct meanings. In modern Western cultures dominated by nuclear family constructs, it has come to be used generically to refer to grandparents, uncles, aunts, and cousins, whether they live together within the same household or not. However, it may also refer...
and her village's headman
Village head
The village headman or village chief is a central government post. The village headman is the person appointed to administer an area that is often a single village.The headman has several official duties in the village...
. Finally her parents, alarmed at her illness and dehydration
Dehydration
In physiology and medicine, dehydration is defined as the excessive loss of body fluid. It is literally the removal of water from an object; however, in physiological terms, it entails a deficiency of fluid within an organism...
, defied her other relatives and took her back to hospital, where under proper medical treatment including antibiotic
Antibiotic
An antibacterial is a compound or substance that kills or slows down the growth of bacteria.The term is often used synonymously with the term antibiotic; today, however, with increased knowledge of the causative agents of various infectious diseases, antibiotic has come to denote a broader range of...
and a saline drip she started to improve, and stopped vomiting, and started drinking milk and defecating normally; but 6 hours later, at two months old to the day, she died of a heart attack. She was buried in her village, as is usual in Hinduism with children who die very young. Later a temple
Hindu temple
A Mandir, Devalayam, Devasthanam, or a Hindu temple is a place of worship for followers of Hinduism...
was built at the village in her memory.
See also
- Conjoined twinsConjoined twinsConjoined 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...
- JanusJanus-General:*Janus , the two-faced Roman god of gates, doors, doorways, beginnings, and endings*Janus , a moon of Saturn*Janus Patera, a shallow volcanic crater on Io, a moon of Jupiter...
, a Roman god with two faces, after whom Janus cats are named - DurgaDurgaFor the 1985 Hindi Film of Rajesh Khanna see DurgaaIn Hinduism, Durga ; ; meaning "the inaccessible" or "the invincible"; , durga) or Maa Durga "one who can redeem in situations of utmost distress" is a form of Devi, the supremely radiant goddess, depicted as having eighteen arms, riding a lion...
, a three-eyed Hindu goddess - CyclopiaCyclopiaCyclopia is a rare form of holoprosencephaly and is a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities...
- PolycephalyPolycephalyPolycephaly is a condition of having more than one head. The term is derived from the Greek stems poly- meaning 'much' and kephali- meaning "head", and encompasses bicephaly and dicephaly . A variation is an animal born with two faces on a single head, a condition known as diprosopus...
External links
- ‘Sonic Hedgehog’ sounded funny, at first. New York Times, 12 November 2006.
- Rediscovering biology: Unit 7, Genetics of development. Expert interview transcripts, interview with John Incardona, PhD. explanation of the discovery and naming of the sonic hedgehog gene
- Page for sonic hedgehog homolog (SHH) at The Human Genome Organisation (HUGO)
- Two-faced kitten has image problem at Channel4000
- Two-faced kitten shocks owner, veterinarian at OregonNews.com
- Two-faced cat sets record as oldest living "Janus" cat at Reuters
