Achondroplasia is a genetic disorder of bone growth that results in abnormally short stature and is the most common cause of dwarfism ie short stature with disproportionately short limbs. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4 inches) in males and 124 cm (49 inches, or 4 foot 1 inch) in females.
The disorder itself is caused by a change in the DNA for fibroblast growth factor receptor 3 which causes an abnormality of cartilage formation. Although achondroplasia literally means “without cartilage formation,” the defect in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones.
Achondroplasia occurs as a sporadic mutation in approximately 85% of cases (associated with advanced paternal age) or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism. Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant’s chances of being affected increase to 75%.
Achondroplasia is one of the oldest known birth defects. The frequency of achondroplasia is estimated to range from about 1 in 10,000 births in Latin America to about 12 in 77,000 in Denmark. An average figure worldwide is approximately 1 in 25,000 births.Achondroplasia is a bone-growth disorder responsible for 70% of dwarfism cases.
- Abnormal hand appearance with persistent space between the long and ring fingers
- Bowed legs
- Decreased muscle tone
- Disproportionately large head-to-body size difference
- Prominent forehead (frontal bossing)
- Shortened arms and legs (especially the upper arm and thigh)
- Short stature (significantly below the average height for a person of the same age and sex)
- Spinal stenosis
- Spine curvatures called kyphosis and lordosis
There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.
Other causes of dwarfism include Growth hormone deficiency (GHD), spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Turner syndrome, osteogenesis imperfecta (OI) and hypothyroidism. Severe shortness with skeletal distortion also occurs in several of the Mucopolysaccharidoses and other storage disorders.
- Andreas Vesalius was an anatomist, physician, and author of one of the most influential books on human anatomy, De humani corporis fabrica (On the Fabric of the Human Body). Vesalius is often referred to as the founder of modern human anatomy.
- Runi larasati – “woon” (april 4, 1989), famous Indonesian exotic dancer
- Charles Sherwood Stratton – “General Tom Thumb” (January 4, 1838–July 15, 1883), United States
- Jason Acuña (born May 16, 1973), also known as “Wee-Man”, American skateboarder, one of the stars of Jackass (TV series) Achondroplasia
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- Billy Barty (October 25, 1924–December 23, 2000), American actor (Cartilage Hair Syndrome Hypoplasia)
- Sebastiano Biavati, 17th century curator of museum of curiosities
- Matthew Knox, longest lived dwarf who died at 105 years old
- Józef Boruwlaski (1739–1837), Polish “count”
- Bridget The Midget, porn star
- Bushwick Bill (born Richard Shaw, December 8, 1966), American musician, founding member of The Geto Boys. Currently calls himself “Dr. Wolfgang Von Bushwickin the Barbarian Mother Funky Stay High Dollar Billstir.”
- Joe C. (November 9, 1974–November 16, 2000), Kid Rock’s sidekick
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- Chnoum-Hotep, ancient chief of perfumes from the Fifth dynasty of Egypt who is believed to have had achondroplasia.
- Jimmy Clitheroe (1921–1973), British comedian called “The Clitheroe kid.”
- Kevin Costa (born October 31, 1953), American actor
- Tony Cox (born March 31, 1958), American actor
- Caroline Crachami (c. 1815–June 1824) Sicilian who had Primordial dwarfism.
- Eric Cullen (July 12, 1965–August 16, 1996), Scottish actor with achondroplasia.
- Billy Curtis (1909–1988), actor who played a Munchkin and starred in The Terror of Tiny Town.
- François de Cuvilliés, (1695–1768) Flemish architect noted for Cuvilliés Theatre and others.
- Warwick Davis (born February 3, 1970), British actor Spondyloepiphyseal dysplasia congenita
- Nelson de la Rosa (June 1968–October 22, 2006), Dominican actor, had MOPD II form of primordial dwarfism.
- Tamara De Treaux, actress, an inspiration for the book Maybe the Moon.
- Aditya Dev, body builder with dwarfism recorded in the 2006 Guinness Book of World Records as the “World’s Smallest Bodybuilder”.
- Thomas Dilward, Nineteenth century minstrel show entertainer
- Peter Dinklage, (born June 11, 1969), American actor who starred in The Station Agent. Achondroplasia
- The Doll Family, German-born siblings. The eldest was born in 1899, the last died in 2004.
- Michael Dunn (1934–1973), American actor with spondyloepiphyseal dysplasia, type unspecified
- Meredith Eaton-Gilden (born August 26, 1974), American actress
- Mike Edmonds, British actor in Maid Marian and her Merry Men, Time Bandits, and The Safety Dance video.
- Alan Eggleston (born December 30, 1941), Australian politician with achondroplasia.
- Josh Ryan Evans (January 10, 1982–August 5, 2002), American actor Achondroplasia
- Charla Faddoul, American (Syrian born) The Amazing Race contestant (Seasons 5 and 11)
- Nicolas Ferry, nicknamed “Bébé”, French court dwarf (1741–1764) of the Polish king Stanislaw Leszczynski.
- Francis Joseph Flynn (1864–188?), Sideshow entertainer known as “General Mite” who toured on several continents and performed for Queen Victoria. (According to some sources he was several inches shorter than this)
- Phil Fondacaro (born November 8, 1958), American actor
- Eddie Gaedel (June 8, 1925–June 18, 1961), made one plate appearance for the St. Louis Browns in 1951
- Arturo Gil (born March 13, 1960), actor
- Michael Gilden (September 22, 1962–December 5, 2006), American actor
- Lester “Beetlejuice” Green (born June 2, 1968, in Jersey City, New Jersey), entertainer known for his appearances on the Howard Stern show.
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- Martin Klebba (born June 23, 1969), American actor and dwarf sportsperson.
- Wybrand Lolkes, Dutch dwarf (visited Britain in 1790)
- Eric Lynch (born March 11, 1975), American actor, writer and member of The Howard Stern Show’s Wack Pack.
- Patty Maloney (born March 17, 1936), American actress
- Pee Wee Marquette, master of ceremonies at the original Birdland jazz club.
- Matilda of Flanders, the Queen Consort of William the Conqueror (King William I of England)
- Mimie Mathy (born July 8, 1957), French actress and comedian
- Billy Merchant (1919–2001), British circus entertainer.
- Paul Steven Miller (1961–2010), disability rights expert, EEOC Commissioner, professor at the University of Washington School of Law, Special Assistant to the President
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- George Washington Morrison Nutt, Known as “Commodore Nutt”
- Nelson Ned (born March 2, 1947), Brazilian singer and composer
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- He Pingping, (1988–2010), a Chinese man who was known as the shortest man who ever lived and was still able to walk.
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- Dylan Postl (born May 29, 1986), better known as Hornswoggle in World Wrestling Entertainment
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- Jack Purvis (1937–November 1997), British & American actor.
- Judy-Lynn del Rey (January 26, 1943–February 20, 1986), American science fiction editor
- Rice Brothers – formerly the shortest living twins. (From 1951 to 2005 both were alive)
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- Felix Silla (born on January 11, 1937), American actor
- Kiruna Stamell, Australian actress
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- Lavinia Warren (1841–1919), American entertainer
- Chick Webb (died June 16, 1939), big band drummer
- Weng Weng (1957–1992), actor and martial artist.
- Wee Georgie Wood (1895–1979), comic actor with a railway named for him[
- Danny Woodburn (born July 26, 1964), American actor
- Lucia Zarate (1864–1890), Mexican with MOPD II. She is believed to have the lowest weight of any adult woman and may have been shorter than Pauline Musters.
- Javed Kodu of Pakistan is a renowned comedian. He has made many appearances in films, theater and TV dramas.
- Daniel Neil Rodgers (born December 9, 1955), American actor: Graak the Ewok in Star Wars, Return of the Jedi, Under the Rainbow, Van Halen music video “Pretty Woman”.ia.