Achondroplasia

Achondroplasia ( /əˌkɒndrɵˈpleɪziə/) is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder.

Achondroplastic dwarfs have short stature, with an average adult height of 131 centimeters (51.5 inches) for males and 123 centimeters (48.4 inches) for females. Achondroplastic adults are known to be as short as 62.8 cm (24.7 inches). The disorder itself is caused by a change in the DNA for fibroblast growth factor receptor 3 (FGFR3), which causes an abnormality of cartilage formation. If both parents of a child have achondroplasia, and both parents pass on the mutant gene, then it is very unlikely that the homozygous child will live past a few months of its life. The prevalence is approximately 1 in 25,000.

Read more about Achondroplasia:  Causes, Diagnosis, Treatment, Epidemiology, In Other Species

Other articles related to "achondroplasia":

Dwarfism - Characteristics
... In achondroplasia one's trunk is usually of average size, one's limbs being proportionately shorter, one's head usually larger, and a prominent forehead ... In at least one case achondroplasia resulted in a significantly smaller trunk and head ... In most cases of skeletal dysplasia, such as achondroplasia, mental function is not impaired in any way ...
Munchkin (cat) - Health
... the genetic mutation causing the short-legged trait in Munchkins has been referred to as achondroplasia, it has not been proven that the trait is due to a gene at the same ... Furthermore, while achondroplasia is typically associated with an enlarged head as well as short legs, this combination of features is not seen in Munchkin cats ...
Osteochondrodysplasia - Types - Achondroplasia
... Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism ...
List Of People With Dwarfism
1973), also known as "Wee-Man", American skateboarder, one of the stars of Jackass (TV series) Achondroplasia Jyoti Amge (born December 16, 1993), currently the world's smallest girl ... chief of perfumes from the Fifth dynasty of Egypt who is believed to have had achondroplasia ... Eric Cullen (July 12, 1965–August 16, 1996), Scottish actor with achondroplasia ...
Achondroplasia - In Other Species
... that are very similar to those observed in humans exhibiting achondroplasia ... A similar form of achondroplasia was found in a litter of piglets from a phenotypically normal Danish sow ...