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Majewski Osteodysplastic Primordial Dwarfism Type II
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population. It is associated with the protein pericentrin (PCNT). Notable persons with MOPD II * Lucia Zarate, sideshow entertainer * Bridgette Jordan, smallest living woman until her death in 2019 See also *Primordial dwarfism References External links {{Cytoskeletal defects Growth disorders ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primordial Dwarfism
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, even as a fetus. Most individuals with primordial dwarfism are not diagnosed until they are about 3–5 years of age. Medical professionals typically diagnose the fetus as being small for gestational age, or as showing intrauterine growth restriction when an ultrasound is conducted. Typically, people with primordial dwarfism are born with very low birth weights. After birth, growth continues at a much slower rate, leaving individuals with primordial dwarfism perpetually years behind their peers in stature and in weight. Most cases of short stature are caused by skeletal or endocrine disorders. The five subtypes of primordial dwarfism are among the most severe forms of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Office Of Rare Diseases
The Office of Rare Diseases Research is a division of the National Center for Advancing Translational Sciences (NCATS) that oversees the Rare Diseases Clinical Research Network and Genetic and Rare Diseases Information Center. History The Office of Rare Diseases Research was established in 1993 within the Office of the Director of the NIH. Its responsibilities were mandated by statute by the Rare Diseases Act of 2002 The Rare Disease Act of 2002 is a law passed in the United States that establishes the statutory authorization for the Office of Rare Diseases as a federal entity able to recommend a national research agenda, coordinate research, and provide educ .... In 2011, the office became part of the newly created NCATS. ORDR is currently headed by Dr. Anne R. Pariser, who took over the position in February 2018. References {{reflist National Institutes of Health ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institutes Of Health
The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1880s and is now part of the United States Department of Health and Human Services. The majority of NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its own scientific research through the NIH Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program. , the IRP had 1,200 principal investigators and more than 4,000 postdoctoral fellows in basic, translational, and clinical research, being the largest biomedical research instit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pericentrin
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the ''PCNT'' gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) to ensure proper centrosome and mitotic spindle formation, and thus, uninterrupted cell cycle progression. This gene is implicated in many diseases and disorders, including congenital disorders such as microcephalic osteodysplastic primordial dwarfism type II (MOPDII) and Seckel syndrome. Structure PCNT is a 360 kDa protein which contains a series of coiled coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The PACT domain is responsible for targeting the protein to the centrosomes and attaching it to the centriole walls during interphase. In addition, PCNT possesses five nuclear export sequences which all contribute to its nuclear export into the cytoplasm, as well as one nuclear local ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Science (journal)
''Science'', also widely referred to as ''Science Magazine'', is the peer-reviewed academic journal of the American Association for the Advancement of Science (AAAS) and one of the world's top academic journals. It was first published in 1880, is currently circulated weekly and has a subscriber base of around 130,000. Because institutional subscriptions and online access serve a larger audience, its estimated readership is over 400,000 people. ''Science'' is based in Washington, D.C., United States, with a second office in Cambridge, UK. Contents The major focus of the journal is publishing important original scientific research and research reviews, but ''Science'' also publishes science-related news, opinions on science policy and other matters of interest to scientists and others who are concerned with the wide implications of science and technology. Unlike most scientific journals, which focus on a specific field, ''Science'' and its rival ''Nature (journal), Nature'' c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lucia Zarate
Lucia may refer to: Arts and culture * ''Lucía'', a 1968 Cuban film by Humberto Solás * ''Lucia'' (film), a 2013 Kannada-language film * '' Lucia & The Best Boys'', a Scottish indie rock band formerly known as ''LUCIA'' * "Lucia", a Swedish children's song published in ''Barnens svenska sångbok'' * Lucia Ashton, the title character of ''Lucia di Lammermoor'', a 1836 opera by Gaetano Donizetti * one of the title characters of ''Mapp and Lucia'', a series of novels by E. F. Benson * Saint Lucy's Day, a Christian feast day observed on 13 December Places * Lucia, California, a hamlet in Big Sur, California * La Lucia, a suburb in Umhlanga, KwaZulu-Natal, South Africa Other uses * ''Lucia'' (butterfly), a butterfly genus from the tribe Luciini * ''Lucia'' (moth), a synonym of the moth genus ''Adrapsa'' * Lucia (name), a feminine given name and a surname, including a list of people and fictional characters with the name Lucia or Lucía * 222 Lucia, an asteroid See also * Saint ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bridgette Jordan
Bridgette Marie Jordan (June 9, 1989 – June 12, 2019) was the smallest living woman according to Guinness World Records at 2 ft 3in (69 cm). She was also one of the shortest living siblings according to Guinness World Records with her younger brother Brad was 38 inches tall at 20 years old (in 2011). The siblings were born with a rare genetic condition called Microcephalic osteodysplastic primordial dwarfism type II. Bridgette Jordan was the smallest woman in the USA. She lived in Sandoval, Illinois, having attended college at Kaskaskia College. She enjoyed dancing and cheerleading. She was on the cheer squad for Kaskaskia. She wore an infant size 2 shoe. Jordan received the record from the previous Guinness record holder, Elif Kocaman of Kadirli, Turkey, who measured 2 feet, 4.5 inches on September 20, 2011, but then lost the record to Jyoti Amge of Nagpur, India, on December 16, 2011, when Amge turned 18. Jordan was born weighing in at 1 pound, 12 ounces a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primordial Dwarfism
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, even as a fetus. Most individuals with primordial dwarfism are not diagnosed until they are about 3–5 years of age. Medical professionals typically diagnose the fetus as being small for gestational age, or as showing intrauterine growth restriction when an ultrasound is conducted. Typically, people with primordial dwarfism are born with very low birth weights. After birth, growth continues at a much slower rate, leaving individuals with primordial dwarfism perpetually years behind their peers in stature and in weight. Most cases of short stature are caused by skeletal or endocrine disorders. The five subtypes of primordial dwarfism are among the most severe forms of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
