0
What else can I help you with?
Can Achondroplasia be detected before birth?
Yes, it can be detected before birth. Doctors can use an ultrasound to determine if the child is homozygous dominant or heterozygous, in which cases the child would be infected with Achondroplasia, because it is a dominant trait.
Autosomal dominant genetic disorder?
An autosomal genetic disorder is Huntington's disease.
Is achondroplasia nondisjunction?
No, achondroplasia is not caused by nondisjunction. Achondroplasia is a genetic disorder caused by a spontaneous mutation in a gene involved in bone growth. Nondisjunction is a genetic event that occurs during cell division and can lead to abnormal chromosome numbers in offspring.
Is progeria and achondroplasia autoimmune?
Yes, both of them is autoimmune disease.
Where does the word achondroplasia originate from?
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.
Where did John wasmuth find achondroplasia?
John Wasmuth did not discover achondroplasia; it was first described by the French physician Pierre Maroteaux in the 1950s. Achondroplasia is a genetic disorder caused by a mutation in the FGFR3 gene, which affects bone growth and leads to dwarfism. The condition is characterized by short stature and disproportionate limb lengths. While Wasmuth contributed to the understanding of various genetic conditions, he is not associated with the discovery of achondroplasia specifically.
How can you get Achondroplasia?
Achondroplasia, or Dwarfism, is a genetic disorder, both handed down and mutagenic. Quoted from Wikipedia: "Achondroplasia is a result of an autosomal dominant mutation in the fibroplast growth receptor gene 3 (FGFR3), which causes an abnormality of catilage formation."
Is achondroplasia lethal?
No, achondroplasia by itself is not fatal, however there are some life threatening complications that can arise from abormal bone growth like hydrocephalus (an abnormal cerebrospinal fluid leak into the brain) which if not detected and left untreated can be fatal.
What is an achondroplasic?
An achondroplasic is a person who has achondroplasia, a genetic disorder which is the most common form of short limb dwarfism.
What type of inheritance is achondroplasia?
Achondroplasia is inherited by the parents as a dominant disease. It occurs from a defect in the FGFR3 gene. It usually occurs spontaneously. if both parents have the disease they have a 25% chance of having a normal sized child, a 50% chance of having a child with Achondroplasia, and a 25% chance of the child getting both genes from each parent which results in death.
What is the medical term meaning no formation of cartilage?
Achondroplasia means no formation of cartilage.
Is Treatment of genetic disease the same as genetic treatment of disease?
no but as I see it treatment of genetic disease is treating a genetic problem as a genetic treatment of a disease is using genetics to stop a certain disease that can be treated with genetics
