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Tetra-amelia
Tetra-amelia syndrome (''tetra-'' + '' amelia''), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus, lungs and pelvis. The disorder can be caused by recessive mutations in the WNT3 or RSPO2 genes. Presentation Tetra-amelia syndrome is characterized by the complete absence of all four limbs. The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. In many cases, the lungs are underdeveloped, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. Cause RSPO2 and WNT3 genes Researchers have found loss-of-function mutations in the WNT3 or the RSPO2 genes in people ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amelia (birth Defect)
Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. A related term is meromelia, which is the partial absence of a limb or limbs. The term is from Greek ἀ- "lack of" plus μέλος (plural: μέλεα or μέλη) "limb" Symptoms The diagnosis of tetra-amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. WNT3 is the only gene known to be associated with tetra-amelia syndrome. Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome. The mutation detection frequency is unknown as only a limited number of families have been studied. Affected infants are often stillborn or die shortly after birth. Description Amelia may be present as an isolated defect, but it is often associated with major malformations ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
R-spondin 2
R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the ''RSPO2'' gene. R-spondin 2 synergizes with canonical WNT to activate beta-catenin. RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway. In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness. In humans, recessive mutations in RSPO2 abrogate limb and lung development. Bruno Reversade and colleagues have reported in 2018 that loss of RSPO2 results in a syndrome of Tetra-amelia with lung agenesis In medicine, agenesis () refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Many forms of agenesis are referred to by individual names, depending on the organ affected: * A .... References {{gene-8-stub Glycoproteins Extracellular matrix ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amelia (birth Defect)
Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. A related term is meromelia, which is the partial absence of a limb or limbs. The term is from Greek ἀ- "lack of" plus μέλος (plural: μέλεα or μέλη) "limb" Symptoms The diagnosis of tetra-amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. WNT3 is the only gene known to be associated with tetra-amelia syndrome. Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome. The mutation detection frequency is unknown as only a limited number of families have been studied. Affected infants are often stillborn or die shortly after birth. Description Amelia may be present as an isolated defect, but it is often associated with major malformations ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RSPO2
R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the ''RSPO2'' gene. R-spondin 2 synergizes with canonical Wnt signaling pathway, WNT to activate beta-catenin. RSPO2 has been proposed to regulate craniofacial Pattern formation#Biology, patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway. In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness. In humans, Recessive disorders, recessive mutations in RSPO2 abrogate limb (anatomy), limb and lung development. Bruno Reversade and colleagues have reported in 2018 that loss of RSPO2 results in a syndrome of Tetra-amelia syndrome, Tetra-amelia with lung agenesis. References {{gene-8-stub Glycoproteins Extracellular matrix proteins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bruno Reversade
Bruno Reversade (born 1978) is an American human geneticist and developmental biologist . He is a Director of the Institute of Molecular and Cellular Biology and the Genome Institute of Singapore at A*STAR (Singapore) and holds several faculty positions at other universities. Reversade is known for identifying mutated genes that cause Mendelian diseases, for his research on the genetics of identical twins and for the characterizations of novel hormones. Early life and education Bruno Reversade was born in 1974 into a French-American family. He was raised in Grenoble (France) and Washington, D.C. ( US). Bruno Reversade studied at the University Joseph Fourier, Pierre and Marie Curie University and UCLA. Scientific career Reversade became interested in developmental biology in 1997 when studying at the University of Western Ontario (Canada) under the tutelage of Greg Kelly. He earned his master's degree at the Pasteur Institute (Paris, France), where he studied head development ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Joanne O'Riordan
Joanne O'Riordan (born 24 April 1996) is an Irish activist and sports journalist who contributes to ''The Irish Times.'' From Millstreet in County Cork, she is one of seven currently living people born with the condition Tetra-amelia syndrome. She has addressed the United Nations and discussed technology with Massachusetts Institute of Technology (MIT) and Apple. She was named "Person of the Year" in both 2012 and 2013. Activism After developing "a random obsession" with Fine Gael leader and prospective Taoiseach Enda Kenny, she took the morning off school to meet Kenny during the 2011 Irish general election campaign. Kenny was filmed vowing that he would not reduce disability funding if elected. Upon election, Kenny cut disability funding and O'Riordan wrote a letter of disappointment. Her public confrontation with Enda Kenny contributed to O'Riordan's increased profile. The government later changed its mind. She later explained: "I thought Enda Kenny was a cool guy, you know, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nick Vujicic
Nicholas James Vujicic ( ; born 4 December 1982) is an Australian American Christian evangelist and motivational speaker of Serbian descent, born with tetra-amelia syndrome, a rare disorder characterised by the absence of arms and legs. Early life Vujicic was born in Melbourne, Australia, in 1982 to Dušanka and Borislav Vujičić, Serbian immigrants from Yugoslavia. He was born without fully formed limbs and he was bullied at school because of it. At one point, he tried killing himself by drowning in his bathtub but it did not continue. According to his autobiography, his mother refused to see him or hold him when the nurse held him in front of her, and she and her husband went out of the hospital. Originally, the toes of one of his feet were fused. An operation was performed to separate the toes so that he can use them as fingers to grab. He refers to it as his chicken drumstick. He attended Runcorn State High School up in Queensland and has made a couple of appearances th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prince Randian
Prince Randian (sometimes misspelled Rardion or Randion; October 12, 1871 – December 19, 1934), also nicknamed Pillow Man, The Snake Man, The Human Torso, The Human Caterpillar and a variety of other names, was a Guyanese-born American performer with tetra-amelia syndrome and a famous limbless sideshow performer of the early 1900s, best known for his ability to roll cigarettes with his lips. He was brought to the United States by P.T. Barnum in 1889, at the age of 18, and was a popular Coney Island carnival and circus attraction for 45 years. In 1932, he was featured in the film '' Freaks'', in which he is seen lighting up a cigarette with a match. Personal life Randian (whose birth name is unknown) was born with no arms or legs in Demerara, British Guiana. He was Hindu and spoke Hindi, English, French, and German. According to a passenger manifest of SS ''Parima'' from April 14, 1917, he had lived previously at Charlotte Amalie, Saint Thomas, U.S. Virgin Islands. Wi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Violetta (entertainer)
Aloisia Wagner (born 1905/1906, date of death unknown), better known by her stage name Violetta, was a German-American woman who was born without legs or arms with a condition known as tetra-amelia syndrome. She was born in Hemelingen, Germany, and had a lengthy career in sideshow performance. Aloisia Wagner was born in either 1905 or 1906. The exact date of birth is unknown. On March 23, 1924, she left her birth city of Bremen-Hemelingen, Germany, with her stepbrother and manager, Karl Grobecker, aboard the which arrived in New York on April 3, 1924. According to the ship manifest, Aloisia had blonde hair and green eyes, was 3 feet tall, and was allowed into the U.S. for 25 weeks to work for Samuel W. Gompertz in his Dreamland Circus Side Show. She was the daughter of Elise Wagner, of Hemelingen, Moltkestr. 26 (map). The manifest's "Held For Special Inquiry" page shows that both were held (in hospital) for one day before being allowed to enter the U.S. Other pages of the manife ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Francis Parker School (San Diego)
Francis Parker School (''Parker)'' is a college preparatory independent day school in San Diego, California, serving students from junior kindergarten through twelfth grade. Parker was founded in 1912 by Clara Sturges Johnson and William Templeton Johnson, themselves recent arrivals to the West Coast. The Johnsons' nieces had attended the original Francis W. Parker School in Chicago, founded eleven years earlier, and sought to recreate the same progressive education standards at the original institution. While the institutions are both named after Colonel Parker, the schools themselves differ in their day-to-day operation as well as the structure of institutions such as the student government. The original Parker campus was established in 1912 at its current location in Mission Hills; a second campus, containing a middle and upper school, was established subsequently in Linda Vista. History During its founding in 1912, Francis Parker School was heavily influenced in both name ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lisa Manyata Olson
Lisa or LISA may refer to: People People with the mononym * Lisa Lisa (born 1967), American actress and lead singer of the Cult Jam * Lisa (Japanese musician, born 1974), stylized "LISA", Japanese singer and producer * Lisa Komine (born 1978), Japanese singer formerly known as Lisa, stylized "lisa" * Lisa (South Korean singer) (born 1980), South Korean singer and musical theatre actress * LiSA (Japanese musician, born 1987), Japanese singer * Lisa (rapper) (born 1997), Thai rapper, member of K-pop group Blackpink * Lisa (French musician) (born 1997), French singer and actress People with the name *Lisa (given name), a feminine given name * Lisa (surname), a list of notable people with the surname Places Romania * Lisa, Brașov * Lisa, Teleorman * Lisa, a village in Schitu, Olt * Lisa River United States * Fort Lisa (Nebraska) (1812–1823), a trading post in the US * Fort Lisa (North Dakota) (1809-1812), a trading post in the US Elsewhere * Lisa, Ivanjica, a municipality i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hirotada Ototake
(born April 6, 1976) is a Japanese sports writer from Tokyo, Japan. Born without arms and legs due to a genetic disorder called tetra-amelia syndrome, Ototake is most notable for his 1998 memoir (). Within a year of publication, the book became the third-best-selling book in Japan since World War II. It has since been translated into English. After publishing his autobiography, Ototake became a successful sports journalist. In 2007, he took a job as a primary school (first through sixth grades) teacher at Suginami Dai-Yon Elementary School in Tokyo. He starred in the 2013 film, based on the events of his own life as a teacher, ''Daijōbu 3-Gumi'' (), English title: ''Nobody's Perfect''. The Liberal Democratic Party considered recruiting Ototake to run in the summer 2016 upper house elections. However, in March 2016, the tabloid magazine ''Shukan Shincho'' reported that Ototake had affairs with five women since the birth of his eldest son in 2008. Ototake acknowledged and apolo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
