What is Achondroplasia?

Achondroplasia is the most common form of Dwarfism. It affects about one in every 25,000 births and it occurs in all races and in both sexes. There is evidence of Achondroplasia as far back as Ancient Egypt.

Achondroplasia is genetic and can be passed on through generations, but not in all cases. Normal size parents can have a child with Achondroplasia when a new mutation occurs in the egg or sperm cell that formed the embryo. IN this instance, it is unusual for the parents to have another child with Achondroplasia, but that child will have a chance of passing on the defective gene and if he or she marries and has a child with another dwarf, the chance of their child having Achondroplasia increases even more. If a child inherits the gene from both parents, the child will develop the fatal form of Achondroplasia. In this case there is a test that can be performed before birth to see if the child has the fatal form of Achondroplasia. It is caused by a defect in chromosome 4 . Basically, this form of dwarfism is a failure of cartilage to form bone correctly. It goes too slow, thereby making limbs shorter than they should be.

The child with Achondroplasia has poor muscle tone and will walk later than usual, are susceptible to frequent ear infections, can have serious breathing problems caused by compression of the spinal cord and have many skeletal abnormalities and must be looked after by a doctor with experience in treating dwarfism. They are also susceptible to hydrocephalus, or water and the brain and in some cases must have a shunt installed to drain the fluid away from the brain. A shunt is a life long thing and they can malfunction and need to be replaced.

The fact that the defective gene has been identified and that researchers know what mutation happens does hold out some hope the in the future there may be a way to treat Achondroplasia, but more research is needed. They know the gene and what happens, they still have to discover how it happens. There is one treatment in the early stages of testing and that is the use of HGH or Human Growth Hormone. There have been some cases reported of children with Achondroplasia gaining some growth, but there is a long way to go before a definitive conclusion can be made as to its overall effectiveness. The only other treatment for Achondroplasia is surgery which involves lengthening the leg bones by up to 12 inches. It is long duration, and very painful and can lead to many complications. It is not a decision to be made lightly.

People with dwarfism lead normal lives. It does not affect their intellect at all. Children can play sports and attend regular school. Adults hold jobs, and have the same abilities as anyone else. They can also drive cars with an extension for the break and gas pedals. But medical attention is always needed and children must be constantly monitored to detect any problems as early as possible.