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Encyclopedia results for Achondroplasia

Achondroplasia





Encyclopedia results for Achondroplasia

  1. Tom Shakespeare

    Sir Thomas William Shakespeare, 3rd Baronet born 11 May 1966 , better known as Tom Shakespeare , is a sociology sociologist . He has achondroplasia . Shakespeare was educated at Radley College Radley and Pembroke College, Cambridge , and gained a Master of Philosophy MPhil degree from King s College, Cambridge in 1991. Whilst a student, he featured in a television documentary about his restricted growth, along with his father, Sir William Geoffrey Shakespeare, a prominent medical practitioner. Shakespeare then lectured in sociology at the University of Sunderland from 1993 and returned to King s College in 1995 to receive his Doctor of Philosophy PhD degree. His father died in 1996 and Shakespeare inherited his baronetcy, but does not use the title. He is also a campaigner for disability rights , a writer on disability , genetics and bio ethics and was the co author of The Sexual Politics of Disability 1996 ISBN 0 304 33329 8 . He studied political science at Cambridge University. As a radical student, he supported liberation movements such as feminism, anti racism and lesbian and gay rights. During his M Phil, he wrote a book about the politics of disability. He also authored the book Disability Rights and Wrongs published by Routledge in 2006 and co authored Edited Arguing About Disability published in 2009 by Routledge. He was formerly a research fellow at Newcastle University . He currently works for the World Health Organization , in Geneva. Shakespeare is a member of the Religious Society of Friends Religious Society of Friends Quakers . ref http www.sofn.org.uk conf2009 docs flier2009.pdf Science and Religion Making Meaning , Conference of Sea of Faith Network UK , July 2009 ref References references External links http www.ncl.ac.uk peals people profile t.w.shakespeare Profile at PEAL deadlink date October 2011 start box s reg uk bt succession box title Shakespeare Baronets Baronet br of Lakenham before William Geoffrey Shakespeare after current incumbent ye ...   more details



  1. Brad Williams (comedian)

    BLP sources date April 2011 Infobox person name Brad Williams birthname Brad Williams birth date Birth date and age 1984 01 13 birth place Orange, California Orange , California death date death place website http www.bradwilliamscomedy.com Brad Williams born 1984 in Orange, California is a comedian and actor. He regularly appeared on the show Mind of Mencia . Williams was born with Achondroplasia , a type of dwarfism . His condition plays a large part in the bits in both his stand up comedy and television roles. He was a student at Sunny Hills High School in Fullerton, California and after graduation, he attended the University of Southern California but dropped out to pursue his acting and comedy career. Williams got his start by attending a Carlos Mencia live comedy show. While he was in the crowd Mencia made jokes about dwarfs. The people sitting close to Williams were scared to laugh. Mencia noticed this, then noticed Williams and he asked Brad to join him on stage. Brad cracked a few jokes and impressed Mencia. Mencia then asked Williams to try stand up and be his opening act on the road. Brad has been Mencia s opening act ever since, opening up shows on both the Mind of Mencia tour and the popular Punisher Tour. ref http newsminer.com bookmark 9723571 Size does matter for comedian Brad Williams smaller is better Size does matter for comedian Brad Williams, smaller is better ref Brad s memorable roles on the Mind of Mencia include playing a dwarf whore whorf , the leader of an all dwarf basketball team, joining Mencia at a Renaissance faire, and giving a speech about his hatred of podiums. Brad is frequently confused with Jason Acu a Wee Man from Jackass TV series Jackass because of their similar appearance. ref http www.tmz.com 2007 07 05 tmzs small mistake big trouble TMZ s Small Mistake Big Trouble ref For St. Patrick s Day 2008, Brad, dressed as a leprechaun, made an appearance on the Tonight Show with Jay Leno . For Halloween 2008, Brad dressed up as Chuc ...   more details



  1. Jyoti Amge

    Infobox person name Jyoti Amge image imagesize caption birthname Jyoti Amge birth date birth date and age 1993 12 16 birth place India yearsactive occuphsdygration death date death place spouse height 62.8 cm Jyoti Amge born December 16, 1993 , a resident of Nagpur , India , is currently the world s smallest woman according to the Limca Book of Records and Guinness Book of Records . ref cite news title Tiny Teenager Stands Tall Despite Her Height of 23 Inches url http www.foxnews.com story 0,2933,348248,00.html work FOXNews.com publisher Fox News Channel date 2008 04 09 accessdate 2008 07 20 ref ref cite web url http www.coca colaindia.com limca book of records humanstory.asp title Limca Book of Records, The Human Story accessdate 2008 04 12 format work Limca Book Of Records publisher The Coca Cola Company archiveurl http web.archive.org web 20080315073548 http www.coca colaindia.com limca book of records humanstory.asp Bot retrieved archive archivedate 2008 03 15 ref A documentary featuring Amge was broadcast in the United Kingdom on Channel 4 on June 11, 2009 at 21 00 called BodyShock Two Foot High Teen . As of December 16, 2011, on her 18th birthday, she has been officially declared the World s smallest woman by Guinness Book of Records with a height of 62.8  cm. Her restricted height is due to a growth anomaly called achondroplasia . ref http www.guinnessworldrecords.com news 2011 12 new worlds shortest woman its official jyoti amge from india is new record holder Guinness Book Of World Records ref See also List of shortest people List of shortest people Shortest women Shortest women Primordial dwarfism Dwarfism References reflist External links http news.rediff.com slide show 2009 jun 22 slide show 1 indias shortest teenager.htm Rediff Slide Show http www.thesun.co.uk sol homepage news 4001832 2ft tall Jyoti Amge is the worlds smallest woman.html Sun.co.uk news about Jyoti http xtremefast.com pictures jyoti amge smallest girl in the world.html Jyoti Amge Pe ...   more details



  1. Zoltan Vajo

    receptor 3 disorders the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...   more details



  1. Munchkin (cat)

    what they consider a breed based on a genetic disease , achondroplasia . ref name FIF http web.archive.org ... the short legged trait in Munchkins has been referred to as achondroplasia , ref name FIF it has not been proven that the trait is due to a gene at the same Locus genetics locus as causing achondroplasia in humans. Furthermore, while achondroplasia is typically associated with an enlarged head ... of cat with a gene causing osteochondrodysplasia rather than achondroplasia . References reflist ...   more details



  1. Chromosome 4 (human)

    syndrome EVC2 Ellis van Creveld syndrome 2 limbin FGFR3 fibroblast growth factor receptor 3 achondroplasia ... The following are some of the diseases related to genes located on chromosome 4 achondroplasia autosomal ...   more details



  1. Fibroblast growth factor receptor

    The fibroblast growth factor receptors are, as their name implies, Receptor biochemistry receptors that bind to members of the fibroblast growth factor family of proteins. Some of these receptors are involved in pathological conditions. For example, a point mutation in FGFR3 can lead to achondroplasia . Structure The fibroblast growth factor receptors consist of a cellular ligand domain composed of three immunoglobulin like domains, a single transmembrane helix domain, and an intracellular domain with tyrosine kinase activity. These receptors bind fibroblast growth factor s, members of the largest family of growth factor ligands, comprising 22 members. ref name ornitz cite journal author Ornitz DM. and Itoh, N. title Fibroblast growth factors journal Genome Biol. year 2001 volume 2 issue 3 pages REVIEWS 3005 pmid 11276432 doi 10.1186 gb 2001 2 3 reviews3005 pmc 138918 ref The natural gene splicing alternate splicing of four fibroblast growth factor receptor FGFR genes results in the production of over 48 different isoform s of FGFR. ref name duchesne cite journal author Duchesne L, Tissot B. et al. title N glycosylation of fibroblast growth factor receptor 1 regulates ligand and heparan sulfate co receptor binding journal J. Biol. Chem. year 2006 volume 281 issue 37 pages 27178 27189 pmid 16829530 doi 10.1074 jbc.M601248200 ref These isoforms vary in their ligand binding properties and kinase domains, however all share the common extracellular region composed of three immunoglobulin Ig like domains D1 D3 , and thus belong to the immunoglobulin superfamily . ref name coutts cite journal author Coutts JC, and Gallagher JT. title Receptors for fibroblast growth factors journal Immunol. Cell. Biol. year 1995 volume 73 issue 6 pages 584 589 pmid 8713482 doi 10.1038 icb.1995.92 ref The three immunoglobin Ig like domains D1, D2, and D3 present a stretch of acid ic amino acid s the acid box between D1 and D2. This acid box can participate in the regulation of FGF binding to ...   more details



  1. Sarah Bowen

    Use Australian English date October 2011 Infobox sportsperson name Sarah Bowen image imagesize caption fullname nicknames nationality AUS club collegeteam birth date 15 April 1984 birth place Geelong death date death place height weight medaltemplates MedalSport Swimming sport Swimming MedalCompetition Paralympic Games MedalGold 2004 Summer Paralympics 2004 Athens Women s 100 space m Breaststroke S7 classification SB6 MedalSilver 2008 Summer Paralympics 2008 Beijing Women s 100 space m Breaststroke SB6 MedalCompetition IPC Swimming World Championships MedalGold 2002 Mar de Plata Women s 100 space m Breaststroke SB5 MedalSilver 2006 Durban Women s 100 space m Breaststroke SB6 Sarah Bowen , Order of Australia OAM ref name abcoam cite web url http www.abc.net.au cgi bin common printfriendly.pl?http www.abc.net.au news newsitems 200501 s1289376.htm title Stolle, Miller, Mark Waugh named in honours list publisher ABC News Australia ABC News date 26 January 2005 accessdate 2 February 2012 ref born 15 April 1984 ref name 2004 media guide cite book title Media guide 2004 Athens Paralympic Games publisher Australian Paralympic Committee location Sydney, Australia date 2004 ref is an Australian Paralympic swimmer. She was born in Geelong with achondroplasia dwarfism . ref name ipcbio She competed in four events at the 2004 Summer Paralympics 2004 Athens Games and won a gold medal in the Women s 100m Breaststroke S7 classification SB6 event, ref name IPC cite web title Athlete Search Results url http www.paralympic.org Sport Results search.html?sport all&games all&medal all&npc all&name Bowen&fname Sarah&gender all publisher International Paralympic Committee accessdate 2 February 2012 ref for which she received a Order of Australia Medal of the Order of Australia . ref name abcoam At the 2008 Summer Paralympics 2008 Beijing Games , she competed in three events and won a silver medal in the Women s 100m Breaststroke SB6 event. ref name IPC At the IPC Swimming World Championshi ...   more details



  1. Cesky Terrier

    also Terrier Terrier Group Working terrier Achondroplasia References refs External links commons ...   more details



  1. Jason Acuņa

    pp semi blp small yes Infobox person image Jason Acu a Wee Man Waterfront Marriott, Portland, Oregon August 15, 2009 Full Body.jpg imagesize 150px caption Acu a at the Waterfront Marriott in Portland, Oregon Portland , Oregon , August 2009 name Jason Acu a birth date Birth date and age 1973 5 16 birth place Pisa , Italy death date death place othername Wee Man occupation Actor, television host years active 1996 present website Jason Acu a born May 16, 1973 , ref cite web url http www.wee man.com thelowdown.html title The Lowdown author WeeMan.com accessdate March 13, 2007 archiveurl http web.archive.org web 20040402161738 http www.wee man.com thelowdown.html archivedate April 2, 2004 ref also known as Wee Man , is an American TV host and actor. He is one of the stars of Jackass TV series Jackass on MTV and the host of Fox Sports Net s skateboarding show 54321 . Acu a has achondroplasia , a form of dwarfism , and is 4 ft in 123 cm tall. He is also a professional skateboarder. Life and career Born in Pisa , Italy of Chile an origin, Acu a grew up in Torrance, California Torrance , California , and attended North High School Torrance North High School . He was the subscription manager for the skateboard magazine Big Brother magazine Big Brother . His association with that magazine led him to become involved with the Jackass tv series Jackass television series in 2001. Acu a s Jackass antics include skating as an Oompa Loompa , kicking himself in the head a feat accomplished with the aid of his dwarven proportions , dressing as a king while rolling Johnny Knoxville down a staircase in a red carpet, doing deep knee bends while holding NBA star Shaquille O Neal on his back, and having Preston Lacy ask someone to help him with his bags, only to have Wee Man pop out, causing Preston to give chase. In 2007, Acu a starred in the reality TV series Armed and Famous and in July 2007, Acu a appeared on TV as a host of MTV s Scarred Live . Acu a appeared on the first season of NBC ...   more details



  1. Thanatophoric dysplasia

    3 disorders the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...   more details



  1. List of MeSH codes (C05)

    C05.116.099.708.017 Achondroplasia achondroplasia MeshNumber C05.116.099.708.195 Chondrodysplasia Punctata ...   more details



  1. Bone morphogenetic protein 8b

    PBB geneid 656 Bone morphogenetic protein 8B is a protein that in humans is encoded by the BMP8B gene . ref name pmid1460021 cite journal author Ozkaynak E, Schnegelsberg PN, Jin DF, Clifford GM, Warren FD, Drier EA, Oppermann H title Osteogenic protein 2. A new member of the transforming growth factor beta superfamily expressed early in embryogenesis journal J Biol Chem volume 267 issue 35 pages 25220 7 year 1993 month Jan pmid 1460021 pmc doi ref ref name pmid9070944 cite journal author DiLeone RJ, King JA, Storm EE, Copeland NG, Jenkins NA, Kingsley DM title The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4 journal Genomics volume 40 issue 1 pages 196 8 year 1997 month Jun pmid 9070944 pmc doi 10.1006 geno.1996.4533 ref ref name entrez cite web title Entrez Gene BMP8B bone morphogenetic protein 8b osteogenic protein 2 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 656 accessdate ref The protein encoded by this gene is a member of the Transforming growth factor beta TGF superfamily. It has close sequence homology to BMP7 and BMP5 and is believed to play a role in bone and cartilage development. It has been shown to be expressed in the hippocampus of murine embryos . The bone morphogenetic proteins BMPs are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor beta TGFB superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. ref name entrez References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Gre ...   more details



  1. Timmy Lenox

    Infobox soap character name Timmy Lenox series Passions portrayer Josh Ryan Evans years 1999 2002 first July 9, 1999 last August 5, 2002 cause Killed by Charity Standish Zombie Charity creator James E. Reilly books Hidden Passions spinoffs image1 File Passionstimmy.jpg caption1 Josh Ryan Evans as Timmy Lenox image2 caption2 image3 caption3 nickname alias gender Male death cause Injuries sustained in battle against Charity Standish Zombie Charity occupation title residence Lenox House br Harmony, New England parents Created by Tabitha Lenox siblings spouse romances children grandparents aunts uncles cousins relatives color D8BFD8 color text DO NOT REMOVE DIRECTV REFERENCES UNLESS A CONSENSUS IS REACHED IN AN APPROPRIATE FORUM Timmy Lenox was a fictional character on the NBC DirecTV daytime drama Passions portrayed by Josh Ryan Evans . In an ironic twist of fate, the actor died of a congenital heart defect the very day his character Timmy died on the show and donated his heart to Charity Standish . ref name sodcharacters cite web url http www.soapoperadigest.com features passions features characterstudy title Character Study PASSIONS s Most Entertaining Characters accessdate 2008 01 03 publisher Soap Opera Digest ref ref name soapcentral cite web url http www.soapcentral.com ps whoswho timmy.php title Who s who in Harmony Timmy publisher Soapcentral.com accessdate 2008 01 03 ref ref name achond cite web url http rarediseases.about.com od rarediseasesa a achondroplas05.htm title Josh Ryan Evans and Achondroplasia publisher About.com accessdate 2008 01 03 ref ref name ewgoodbye cite news url http www.ew.com ew article 0,,334485,00.html title Goodbye publisher Entertainment Weekly accessdate 2008 01 04 first Gary last Susman date 2002 08 06 ref Character s background Timmy was originally a doll created by the town witch Tabitha Lenox as a sidekick in her various evil schemes against the people of Harmony Passions Harmony . Timmy had a good heart though and came to love C ...   more details



  1. Congenital abnormality

    Infobox Disease Name Congenital Anomaly Image Caption DiseasesDB ICD10 http www.who.int classifications apps icd icd10online kq00.htm Chapter Q ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D000013 Expert subject Medicine date October 2009 File Deformed steer 1 .JPG thumb 300px A grown steer with five legs. A congenital anomaly congenital abnormality , congenital malformation , birth defect is a condition which is present at the time of birth which varies from the standard presentation. ref name urlPenn State Plastic Surgery Hand & Wrist Surgery Congenital Abnormalities cite web url http www.hmc.psu.edu plasticsurgery services adult hand congenital.htm title Penn State Plastic Surgery Hand & Wrist Surgery Congenital Abnormalities work accessdate ref It is a type of congenital disorder which is primarily structural in nature. ref MeshName Congenital Disorders ref Types A limb anomaly is called a dysmelia . These include all forms of limbs anomalies, such as amelia birth defect amelia , ectrodactyly , phocomelia , polymelia , polydactyly , syndactyly , polysyndactyly , oligodactyly , brachydactyly , dwarfism achondroplasia , congenital aplasia or hypoplasia , amniotic band syndrome , and cleidocranial dysostosis . Congenital anomalies of the heart include patent ductus arteriosus , atrial septal defect , ventricular septal defect , and tetralogy of fallot . Helen Taussig has been a major force in research on congenital anomalies of the heart. http www.answers.com topic helen taussig Congenital anomalies of the nervous system include neural tube defects such as spina bifida , meningocele , meningomyelocele , encephalocele and anencephaly . Other congenital anomalies of the nervous system include the Arnold Chiari malformation , the Dandy Walker malformation , hydrocephalus , microencephaly , megencephaly , lissencephaly , polymicrogyria , holoprosencephaly , and agenesis of the corpus callosum . Congenital anomalies of the gastrointestinal system inclu ...   more details



  1. Mimie Mathy

    Infobox person name Mimie Mathy image Mimie Mathy Cannes.jpg imagesize 210px alt caption Mimie Mathy at the 1994 Cannes Film Festival birth name Mich le Mathy birth date Birth date and age 1957 07 08 birth place Lyon , France death date Death date and age YYYY MM DD YYYY MM DD Death date then birth death place othername occupation Actor, comedian, singer, writer yearsactive 1980 2011 spouse Benoist G rard domesticpartner website http www.mimiemathy.com Mimie Mathy b. July 8, 1957 is a French actress and comedienne who is best known for her starring role in the long running Josephine, Guardian Angel lang fr Jos phine, ange gardien television series. Mathy has achondroplasia , a form of dwarfism , and is height ft 4 in 4 tall. ref name Randall cite news title Short sharp shock for followers of the femme fatale first Colin last Randall newspaper The Daily Telegraph date 7 March 2006 url http www.telegraph.co.uk news worldnews europe france 1512330 Short sharp shock for followers of the femme fatale.html ref Biography Interested in the theatre from childhood, she studied the dramatic arts from 1979 to 1981 at Michel Fugain s workshop in Nice . ref name Mathy cite web url http www.mimiemathy.com accueil index.html title L Atelier de Nice author Mimie Mathy date work Biographie publisher accessdate 22 April 2010 ref In the early 1980s she performed in a number of theatre roles and appeared in Le Petit Th tre de Bouvard television show. She formed a touring comedy troupe Le Trio des Filles The Three Girls which performed shows such as Existe en trois tailles Available in Three Sizes from 1988 to 1993. ref name Mathy In 1993 she performed in the TV movie Une nounou pas comme les autres A Nanny Like No Other , which garnered a 52.7 market share 12 million viewers in France. ref cite news title Dossier les Paradoxes de la Fiction Fran aise le Calvaire du Producteur first Catherine last Humblot newspaper Le Monde date 31 July 1994 url http www.lemonde.fr cgi bin ACHATS 334534 ...   more details



  1. Charla Baklayan Faddoul

    Infobox person name Charla Baklayan Faddoul image Charla Baklayan.jpg image size caption Charla Baklayan Faddoul birth date July 23, 1976 birth place Aleppo, Syria spouse David Faddoul 2001&ndash Present Charla Baklayan Faddoul is a reality television participant who appeared on The Amazing Race 5 and The Amazing Race All Stars television shows. Charla was born with achondroplasia , the most common form of dwarfism, and is 4 1.22 m tall. Her partner on The Amazing Race was her cousin Mirna Hindoyan. Charla Baklayan was born on July 23, 1976 in Aleppo, Syria to Armenian parents, Garbis and Rosine Baklayan. Her family immigrated to America in 1978. Charla is a graduate of Dulaney High School and Towson University with a degree in Business Management. The Amazing Race 5 On the audition tape for The Amazing Race, Charla lifted weights and even carried her teammate on her shoulders to prove her physical strength. During the actual show, Charla carried a 55 pound side of beef, blocked five slap shots by a professional hockey player, ate one kilogram 2.2  lb of caviar, and ate a portion of an ostrich egg which was the equivalent of two dozen chicken eggs. At the time, Little People of America spokesman Dan Okenfuss said that What Charla is doing on the show is great, introducing little people to the mainstream world, doing an activity average sized people are doing. ref name interview http www.usatoday.com life people 2004 07 26 amazing race charla x.htm Contestant knows no limits in Amazing Race run , http www.usatoday.com. Retrieved on 2010 11 09. ref The Amazing Race All Stars Charla & Mirna competed against ten other teams from previous seasons for a second chance at winning 1 million dollars. This time, Charla helped a cowboy lasso, tie down, and groom a wild horse, ate two feet of kielbasa sausage, donned a suit of armor to lead a horse a half mile, climbed up an 11 story bamboo scaffold and sky jumped 233 meters 764  feet from the observation deck of the Mac ...   more details



  1. Matthew Roloff

    Infobox person name Matthew Roloff image imagesize caption birth date birth date and age 1961 10 7 birth place San Francisco, California , United States U.S. occupation Author Farmer residence Hillsboro, Oregon , United States U.S. spouse marriage Amy Roloff 1987 children Zach, Jeremy, Molly, Jacob Matthew James Roloff born October 7, 1961 is an actor, author, farmer and businessman, best known for participating with his family in the reality television program Little People, Big World seen on TLC TV channel TLC . The show featured the Roloffs daily life. Roloff has dwarfism , as does his wife Amy and one of their four children, Zachary. Family The Roloff family includes Matt, who was born with diastrophic dysplasia , his wife Amy, also a little person with achondroplasia , and four children fraternal twins Jeremy and Zachary born 1990 , Molly born 1993 , and Jacob born 1997 . Zach, like his mother, has achondroplasia, while the other three children are average height. Matt and Amy met at a Little People of America convention in 1987. The couple were engaged very quickly and were married on September 12, 1987. Matt s parents, Ron and Peggy, were also featured Little People, Big World . They are of average height as is his older sister, Ruth. His younger brother Sam, an artist and founder of Back Story Underpainting, ref http www.samroloff.com Sam Roloff.com ref has diastrophic dysplasia and uses crutches to walk as well. His middle brother Joshua was born with a severe heart malformation. Joshua died in 1999 at age 34. Career Matt appeared as an Ewok in the Star Wars TV movie Ewoks The Battle for Endor . ref name people Tresniowski, Alex. Alexandra Hardy. Tall Order His size once kept him off amusement park rides, so 4 2 Matt Roloff built a fantasy land for his kids People magazine People , April 3, 2000. ref Today, he is still well known around the Hollywood scene because he is good friends with fellow little person and actor Martin Klebba , who appeared in the Pir ...   more details



  1. Miranda Uhl

    with achondroplasia , Uhl began to swim competitively at ten years old. She competed in the 2007 Parapan Games, where she won 8 medals. Personal life Uhl was born with achondroplasia , restricting ...   more details



  1. Crouzon syndrome

    receptor 3 disorders the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...   more details



  1. Sex linkage

    Achondroplasia Ehlers Danlos syndrome vascular type Acute intermittent porphyria Hypertrophic ...   more details



  1. Craniofacial surgery

    , ambiguous genitalia , and achondroplasia . See also Oral and maxillofacial surgery Plastic surgery ...   more details



  1. Chondrodystrophy

    Cleanup date October 2007 Infobox disease Name Chondrodystrophy Image Caption DiseasesDB 2592 ICD10 ICD10 Q 78 9 q 65 ICD9 ICD9 756.4 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Chondrodystrophy literally, cartilage mal development refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage . ref name titleDefinition chondrodystrophy from Online Medical Dictionary cite web url http cancerweb.ncl.ac.uk cgi bin omd?chondrodystrophy title Definition chondrodystrophy from Online Medical Dictionary accessdate 2007 12 23 format work ref It is a very general term, and is usually only used in the medical literature when a more precise description of the condition is not available. Presentation Chondrodystrophy is characterized by a normal sized trunk with abnormally shortened limbs and extremities Dwarfism . Those affected with the disorder often call themselves dwarves, little people or short statured persons. With the advancements in medicine, there are over 100 specific skeletal dysplasias that have been identified. Chondrodystrophy is found in all races and in both females and male and occurs around 1 in every 25,000 children. Chondrodystrophy and Achondroplasia are the most common forms of genetic hyaline disorders. Hyaline cartilage caps the long bone s and the spinal vertebrae. Most childhood limb growth takes place at the ends of the long bones, not in the shaft. Normally, as a child grows, the most interior portion of the joint cartilage converts into bone, and new cartilage forms on the surface to maintain smooth joints. The old joint margins edges reabsorb, so that the overall shape of the joint is maintained as growth continues. Failure of this process throughout the body results in a skeletal dysplasia. It also leads to very early onset of Osteoarthritis , because the defective cartilage is extremely fragile and vulnerable to normal wear and tear. Causes It is thought that chondrodystrophy r ...   more details



  1. BioMarin Pharmaceutical

    therapeutic for the treatment of achondroplasia BMN 111 . ref cite news url http torontostar.morningstar.ca ...   more details



  1. Eleanor Simmonds

    achondroplasia . Simmonds competed at the 2008 Summer Paralympics in Beijing , China in the 50  ...   more details




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