Achondroplasia Research Paper

Marissa McMillen
4/21/15
Period 6
Bennett

Achondroplasia: The Little People of the World

The word achondroplasia means “without cartilage formation.” However, in achondroplasia, the problem is not in forming cartilage but to convert it to bone. Here is Leah’s story; Leah, age four, was at the mall with her mother Charmaine. While at the checkout the lady behind them said, “Oh how cute, everybody loves a midget” the woman reached out to touch Leah’s hand but she had pulled away, knowing it was after all a stranger. The lady then said, “Oh my I see why, she is a dwarf, she must be Grumpy cause if she was Snow White, she would have given me a smile.” (Kay, Raising Leah) Dwarfism, also known as achondroplasia, is a hereditary condition where the growth of long bones by the natural formation of the bone of cartilage is less advanced,which could result in very short limbs and sometimes Hemifacial Microsomia. This disorder, discovered by Dr. John Wasmuth in 1994, the scientists at the University of California at Irvine found the gene that causes the problem, achondroplasia, just six weeks after they began searching for it. The symptoms for this disorder are pressure on the brain and spinal cord, resulting in nerve and breathing problems, hydrocephalus, which is extra fluid in the brain,

If both parents have achondroplasia, the chance for them to have a child with normal stature is 25%. The parents chance of having a child with achondroplasia is 50%. The parents chance for having a child who inherits the gene mutation from both parents is called homozygous achondroplasia, which could lead to death, is 25%. Most cases are not inherited, if they were passed down, the genes would be dominant. Achondroplasia is not very common, it only occurs in 15,000-1/40,000 people