What is Achondroplasia ?
Achondroplasia is a rare genetic disease caused due to mutations in a specific gene, FGFR3 (fibroblast growth factor receptor 3). The name Achondroplasia translates in English to “without cartilage formation". The defective gene results in improper growth of the cartilage and therefore results in a defective height and build of an individual. Therefore, the major manifestation of the disease is dwarfism specifically with short limbs.
Did you know ?
One child with achondroplasia is born in every 10,000 births
You are not alone
There are a number of people who are famous personalities and suffer from the disease. The disease does not affect the mental growth or intellectual capacity of an individual. Few of them are listed below:
Jyoti Amge (Indian): Guinness World Record holder, film and television actress
Ellie Simmonds (England): Paralympic swimmer
Wee Man (German/American): Actor, stunt performer, television personality, skateboarder
Danny Woodburn (American): film, television, stage actor, comedian and activist for the rights of disabled persons.
Verne Troyer (American): actor and stunt performer
Chandra Bahadur Dangi (Nepali): World record holder of shortest man, Farmer, Craftsman.
How we could help understanding your genetic mutation ?We could help your doctor arrive at a definitive diagnosis and would be willing to discuss options with your clinician. Please have your doctor contact us: Vinod Scaria (email@example.com) OR Sridhar Sivasubbu (firstname.lastname@example.org)
Genetics and Genetic testing of Achondroplasia
A quick reference booklet for patients and families.Buy on GumRoad