|
Hypotelorism
Hypotelorism is an abnormally decreased distance between two organs or bodily parts, usually pertaining to the eye sockets (orbits), also known as orbital hypotelorism. Causes It is often a result of fetal alcohol syndrome (FAS), caused by large alcohol intake in the first month of pregnancy. It can be associated with trisomy 13, which is also known as Patau syndrome, as well as hereditary neuralgic amyotrophy.Electromyography and Neuromuscular Disorders, Second Edition. Preston and Shapiro. It can also be associated with fragile X syndrome and Prader–Willi syndrome. Metopic synostosis, the early closure of metopic suture during skull development in children, can also cause hypotelorism. See also * Hypertelorism Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as ... Referen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
18p- Syndrome
18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births. Signs and symptoms 18p- causes a wide range of medical and developmental concerns. There is significant variation in severity. This variation is due to the variability of the deletion size and breakpoints. Congenital anomalies About 10–15% of individuals with 18p- have holoprosencephaly. Approximately 10% of people with 18p- have a congenital heart anomaly. There does not appear to be a specific type of heart defect associated with a deletion of the short arm of chromosome 18. Septal defects, tetralogy of Fallot, dextrocardia, and coarctation of the aorta have all been reported in infants with 18p-. Neurologic Hypotonia is frequently seen in the 18p- population. Seizures, though uncommon, have been reported in people with 18p-. Dystonia has also been diagnosed in a small minority of young adults with 18p-. Also, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Eye
The human eye is a sensory organ, part of the sensory nervous system, that reacts to visible light and allows humans to use visual information for various purposes including seeing things, keeping balance, and maintaining circadian rhythm. The eye can be considered as a living optical device. It is approximately spherical in shape, with its outer layers, such as the outermost, white part of the eye (the sclera) and one of its inner layers (the pigmented choroid) keeping the eye essentially light tight except on the eye's optic axis. In order, along the optic axis, the optical components consist of a first lens (the cornea—the clear part of the eye) that accomplishes most of the focussing of light from the outside world; then an aperture (the pupil) in a diaphragm (the iris—the coloured part of the eye) that controls the amount of light entering the interior of the eye; then another lens (the crystalline lens) that accomplishes the remaining focussing of light into ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orbit (anatomy)
In anatomy, the orbit is the cavity or socket of the skull in which the eye and its appendages are situated. "Orbit" can refer to the bony socket, or it can also be used to imply the contents. In the adult human, the volume of the orbit is , of which the eye occupies . The orbital contents comprise the eye, the orbital and retrobulbar fascia, extraocular muscles, cranial nerves II, III, IV, V, and VI, blood vessels, fat, the lacrimal gland with its sac and duct, the eyelids, medial and lateral palpebral ligaments, cheek ligaments, the suspensory ligament, septum, ciliary ganglion and short ciliary nerves. Structure The orbits are conical or four-sided pyramidal cavities, which open into the midline of the face and point back into the head. Each consists of a base, an apex and four walls."eye, human."Encyclopædia Britannica from Encyclopædia Britannica 2006 Ultimate Reference Suite DVD 2009 Openings There are two important foramina, or windows, two important fissu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TheFreeDictionary
''The Free Dictionary'' is an American online dictionary and online encyclopedia, encyclopedia that search aggregator, aggregates information from various sources. Content The site cross-references the contents of ''The American Heritage Dictionary of the English Language'', the ''Collins English Dictionary'', the ''Columbia Encyclopedia'', the ''Computer Desktop Encyclopedia'', the ''Hutchinson Encyclopedia'' (subscription), and Wikipedia, as well as the Acronym Finder database, several financial dictionaries, law dictionary, legal dictionaries, and other content. It has a feature that allows a user to preview an article while positioning the mouse cursor (user interface), cursor over a link. One can also double-click on any word to look it up in the dictionary. Site operator The site is run by Farlex, Inc., located in Huntingdon Valley, Pennsylvania, Huntingdon Valley, Pennsylvania. Farlex also maintains a companion title, ''The Free Library'', an online library of out-of-c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patau Syndrome
Patau syndrome is a syndrome caused by a chromosome, chromosomal abnormality, in which some or all of the Cell (biology), cells of the body contain Trisomy, extra genetic material from chromosome 13 (human), chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaicism, mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring incr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
General Electric
General Electric Company (GE) is an American multinational conglomerate founded in 1892, and incorporated in New York state and headquartered in Boston. The company operated in sectors including healthcare, aviation, power, renewable energy, digital industry, additive manufacturing and venture capital and finance, but has since divested from several areas, now primarily consisting of the first four segments. In 2020, GE ranked among the Fortune 500 as the 33rd largest firm in the United States by gross revenue. In 2011, GE ranked among the Fortune 20 as the 14th most profitable company, but later very severely underperformed the market (by about 75%) as its profitability collapsed. Two employees of GE – Irving Langmuir (1932) and Ivar Giaever (1973) – have been awarded the Nobel Prize. On November 9, 2021, the company announced it would divide itself into three investment-grade public companies. On July 18, 2022, GE unveiled the brand names of the companies it will ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary Neuralgic Amyotrophy
Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and muscle atrophy, preceded by severe pain. In about half of the cases it is associated with a mutation of the ''SEPT9'' gene (17q25). While not much is known about this disorder, it has been characterized to be similar to Parsonage-Turner syndrome in prognosis. Symptoms and signs Symptoms of HNA may include pain in the back, neck, arms, or shoulders, nerve pulls in the arms or back, muscular atrophy, and weakness. Presentation HNA is an episodic disorder; it is characterized by episodes generally lasting 1–6 weeks. During an episode, the nerves of the brachial plexus are targeted by the body as antigens, and the body's immune system begins to damage the nerves of the brachial plexus. The exact order or location of the nerve degeneration cannot be predicted before an episode. Other areas of the nervous system that have been affected are the phrenic nerves and the recurrent lary ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females. This disorder and finding of Fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the ''FMR1'' (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This results in silencing ( methylation) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons. Diagno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children. About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through imprinting, they end up with no working copies of certain genes. PWS is not generally inherited, but rather the genetic changes happen during the format ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Synostosis
Synostosis (plural: synostoses) is fusion of two or more bones. It can be normal in puberty, fusion of the epiphyseal plate to become the epiphyseal line, or abnormal. When synostosis is abnormal it is a type of dysostosis. Examples of synostoses include: * craniosynostosis – an abnormal fusion of two or more cranial bones; * radioulnar synostosis – the abnormal fusion of the radius and ulna bones of the forearm; * tarsal coalition – a failure to separately form all seven bones of the tarsus (the hind part of the foot) resulting in an amalgamation of two bones; and * syndactyly – the abnormal fusion of neighboring digits. Synostosis within joints can cause ankylosis. __TOC__ Clinical significance Radioulnar synostosis is one of the more common failures of separation of parts of the upper limb. There are two general types: one is characterized by fusion of the radius and ulna at their proximal borders and the other is fused distal to the proximal radial epiphysis. Most cas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.Michael L. Bentz: ''Pediatric Plastic Surgery''; Chapter 9 Hypertelorism by Renato Ocampo, Jr., MD/ John A. Persing, MD Hypertelorism is a symptom in a variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz syndrome. Hypertelorism can also be seen in Apert syndrome, Autism spectrum disorder, craniofrontonasal dysplasia, Noonan syndrome, neurofibromatosis, LEOPARD syndrome, Crouzon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
.png "Click for more on -> 18p- Syndrome")
