Otocephaly
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Otocephaly
Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible ( agnathia), with the ears fused together just below the chin (synotia). It is caused by a disruption to the development of the first branchial arch. It occurs in every 1 in 70,000 embryos. Signs and symptoms The disorder is characterised by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). In addition to agnathia and synotia, other symptoms that may manifest in otocephaly include: * Facial/musculoskeletal ** Small (microglossia) or absent (aglossia) tongue ** Small ( microstomia) or absent (astomia) mouth ** Cyclopia with proboscis ** Median cleft lip and cleft palate * Neurological ** Holoprosencephaly ** Agenesis of the corpus callosum ** Anencephaly or other neural tube defects * Organ systems ** Situs inversus (full rotation of the internal organs) ** Cardiac anomalies ** Ambiguo ...
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Otocephaly And Cyclopia
Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible ( agnathia), with the ears fused together just below the chin (synotia). It is caused by a disruption to the development of the first branchial arch. It occurs in every 1 in 70,000 embryos. Signs and symptoms The disorder is characterised by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). In addition to agnathia and synotia, other symptoms that may manifest in otocephaly include: * Facial/musculoskeletal ** Small (microglossia) or absent (aglossia) tongue ** Small ( microstomia) or absent (astomia) mouth ** Cyclopia with proboscis ** Median cleft lip and cleft palate * Neurological ** Holoprosencephaly ** Agenesis of the corpus callosum ** Anencephaly or other neural tube defects * Organ systems ** Situs inversus (full rotation of the internal organs) ** Cardiac anomalies ** Ambiguo ...
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Cyclopia
Cyclopia (named after the Greek mythology character cyclopes) is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. Its incidence is 1 in 16,000 in born animals and 1 in 200 in miscarried fetuses. Signs and symptoms Typically, the nose is either missing or not functional. This deformity (called proboscis) forms above the center eye and is characteristic of a form of cyclopia called rhinencephaly or rhinocephaly. Most such embryos are either naturally aborted or are stillborn upon delivery. Although cyclopia is rare, several cyclopic human babies are preserved in medical museums (e.g. The Vrolik Museum, Amsterdam, Trivandrum Medical College). Some extreme cases of cyclopia have been documented in farm animals (horses, sheep, pigs, and sometimes chickens). In such cases, the nose and mouth fail to form, or the nose grows ...
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Rise Of Modern Medicine
Rise or RISE may refer to: Arts, entertainment, and media Fictional entities * '' Rise: The Vieneo Province'', an internet-based virtual world * Rise FM, a fictional radio station in the video game ''Grand Theft Auto 3'' * Rise Kujikawa, a video game character from ''Persona 4'' Films *''Rise'', a 2011 film with Andrew Stevens * ''Rise'' (2014 film), an Australian film * '' Fantastic Four: Rise of the Silver Surfer'', often abbreviated as "Rise" in promotional material * '' Rise: Blood Hunter'', a 2007 horror/thriller film directed by Sebastian Gutierrez * ''Rise'' (2022 film), an American biographical sports-drama film Music Albums * ''Rise'' (Herb Alpert album), 1979 * ''Rise'' (Annabelle Chvostek album), 2012 * ''Rise'' (The Answer album), 2006 * ''Rise'' (Army of Me EP), a 2006 EP by Army of Me * ''Rise'' (Bad Brains album), 1993 * ''Rise'' (Daryl Braithwaite album), 1990 * ''Rise'' (Building 429 album) * ''Rise'' (Danny Gokey album), 2017 * ''Rise'' (Gabrielle ...
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Mesencephalon
The midbrain or mesencephalon is the forward-most portion of the brainstem and is associated with vision, hearing, motor control, sleep and wakefulness, arousal (alertness), and temperature regulation. The name comes from the Greek ''mesos'', "middle", and ''enkephalos'', "brain". Structure The principal regions of the midbrain are the tectum, the cerebral aqueduct, tegmentum, and the cerebral peduncles. Rostrally the midbrain adjoins the diencephalon (thalamus, hypothalamus, etc.), while caudally it adjoins the hindbrain (pons, medulla and cerebellum). In the rostral direction, the midbrain noticeably splays laterally. Sectioning of the midbrain is usually performed axially, at one of two levels – that of the superior colliculi, or that of the inferior colliculi. One common technique for remembering the structures of the midbrain involves visualizing these cross-sections (especially at the level of the superior colliculi) as the upside-down face of a bea ...
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XK Aprosencephaly
XK aprosencephaly (also called Garcia-Lurie syndrome, aprosencephaly, and aprosencephaly-atelencephaly syndrome) is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth ( microstomia), anal atresia (no anus), and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat). Presentation There are many different symptoms that may indicate the presence of aprosencephaly. Patients typically have a smaller than normal skull, eyes, and mouth, termed microcephaly, microphthalmia, and microstomia. The eyes themselves may be closely separated (hypotelorism) or fused (cyclopia). Infants affected by aprosencephaly often have a variety of ...
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Guinea Pig
The guinea pig or domestic guinea pig (''Cavia porcellus''), also known as the cavy or domestic cavy (), is a species of rodent belonging to the genus ''Cavia'' in the family Caviidae. Breeders tend to use the word ''cavy'' to describe the animal, while in scientific and laboratory contexts, it is far more commonly referred to by the common name ''guinea pig''. Despite their common name, guinea pigs are not native to Guinea, nor are they closely related biologically to pigs, and the origin of the name is still unclear. They originated in the Andes of South America. Studies based on biochemistry and hybridization suggest they are domesticated animals that do not exist naturally in the wild, descendants of a closely related cavy species such as '' C. tschudii''. They were originally domesticated as livestock for a source of meat, and are still consumed in some parts of the world. In Western society, the guinea pig has enjoyed widespread popularity as a pet since its introducti ...
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Sewall Wright
Sewall Green Wright FRS(For) Honorary FRSE (December 21, 1889March 3, 1988) was an American geneticist known for his influential work on evolutionary theory and also for his work on path analysis. He was a founder of population genetics alongside Ronald Fisher and J. B. S. Haldane, which was a major step in the development of the modern synthesis combining genetics with evolution. He discovered the inbreeding coefficient and methods of computing it in pedigree animals. He extended this work to populations, computing the amount of inbreeding between members of populations as a result of random genetic drift, and along with Fisher he pioneered methods for computing the distribution of gene frequencies among populations as a result of the interaction of natural selection, mutation, migration and genetic drift. Wright also made major contributions to mammalian and biochemical genetics. Biography Sewall Wright was born in Melrose, Massachusetts to Philip Green Wright and Elizabeth ...
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Situs Inversus
Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus. Although cardiac problems are more common, many people with situs inversus have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine, it was usually undiagnosed. Situs inversus is found in about 0.01% of the population, or about 1 person in 10,000. In the most common situation, situs inversus totalis, it involves complete transposition (right to left reversal) of all of the viscera. The heart is not in its usual position in the left chest, but is on the right, a condition known as dextrocardia (literally, "right-hearted"). Because the relationship between the organs is not changed, most people with situs inversus have no associated medical symptoms or complications. An uncommon form of ...
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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 begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops. Specific types include: spina bifida which affects the spine, anencephaly which results in little to no brain, encephalocele which affects the skull, and iniencephaly which results in severe neck problems. NTDs are one of the most common birth defects, affecting over 300,000 births each year worldwide. For example, spina bifida affects approximately 1,500 births annually in the United States, or about 3.5 in every 10,000 (0.035% of US births), which has decreased from around 5 per 10,000 (0.05% of US births) since folate fortification of grain products was started. The number of deaths in the US each year due to neural tube ...
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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 fails to close, usually between the 23rd and 26th day following conception. Strictly speaking, the Greek term translates as "without a brain" (or totally lacking the inside part of the head), but it is accepted that children born with this disorder usually only lack a telencephalon, the largest part of the brain consisting mainly of the cerebral hemispheres, including the neocortex, which is responsible for cognition. The remaining structure is usually covered only by a thin layer of membrane—skin, bone, meninges, etc., are all lacking. With very few exceptions, infants with this disorder do not survive longer than a few hours or days after birth. Signs and symptoms The National Institute of Neurological Disorders and Stroke (NINDS) descr ...
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Agenesis Of The Corpus Callosum
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted. The result of this is that the fibers that would otherwise form the corpus callosum are instead longitudinally oriented along the ipsilateral ventricular wall and form structures called Probst bundles. In addition to agenesis, other degrees of callosal defects exist, including hypoplasia (underdevelopment or thinness), hypogenesis (partial agenesis) or dysgenesis (malformation). ACC is found in many syndromes and can often present alongside hypoplasia of the cerebellar vermis. When this is the case, there can also be an enlarged fourth ventricle or hydrocephalus; this is called Dandy–Walker malformation. Signs and symptoms Signs and symptoms of ACC and other callosal disorders vary greatly ...
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Holoprosencephaly
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species. Holoprosencephaly is estimated to occur in approximately 1 in every 250 conceptions and most cases are not compatible with life and result in fetal death in utero due to deformities to the skull and brain. However, holoprosencephaly is still estimated to occur in approximately 1 in every 8,000 live births. When the embryo's forebrain does not divide to form bilateral cerebral hemispheres (the left and right halves of the brain), it causes defects in the development of the face and in brain structure and function. The severity of holoprosencephaly is highly variable. In less severe cases, babies are born with normal or ...
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