Achondroplasia derives its name from Greek roots: "a-" meaning "without," "chondro" referring to cartilage, and "plasia," meaning "formation" or "development." The term reflects the condition's characteristic growth pattern, where cartilage does not develop properly into bone, particularly affecting the long bones and leading to dwarfism. This naming highlights the underlying genetic and developmental processes associated with the disorder.
whats the name of the test that diagnoses achondroplasia
Achondroplasia is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene.
It come from the greek meaning of "without cartilage formation"
There are no medications for achondroplasia
no Ellie Simmonds parents has not got achondroplasia
yes, achondroplasia is hereditary and if one of a parent has it you have 50% chance to inheriting it.
No
Yes ,we are looking for a cure for achondroplasia. Please help! Amita
Mutations in the FGFR3 gene are the cause for achondroplasia (short-limbed dwarfism).
A common scientific name for dwarfism is "achondroplasia." This is a genetic disorder that affects bone growth and results in short stature.
Yes People with achondroplasia can be born to parents that do not have the condition. This is the result of a new mutation.[2]
Achondroplasia comes from the Greek word khondros(meaning "cartilage") and the Greek word plasis (meaning "moulding"). This is a befitting name for the disease as achondroplasia is a hereditary condition where the growth of cartilage in the long bones and skull is stunted, causing the bones to fuse too soon.