Achondroplasia is a genetic disease. It is an autosomal dominant disease. This means that only one abnormal gene inherited from one parent leads to the condition. Most cases of achondroplasia are from
a new gene mutation in families
.
How do you get achondroplasia?
Achondroplasia is inherited in an autosomal dominant pattern
, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene.
What causes achondroplasia?
This genetic disorder is caused by a
change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene
. Achondroplasia occurs as a result of a spontaneous genetic mutation in approximately 80 percent of patients; in the remaining 20 percent it is inherited from a parent.
How did achondroplasia come about?
Achondroplasia is
caused by mutations in the FGFR3 gene
. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue . Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia.
Can achondroplasia be prevented?
Currently, there is no way to prevent achondroplasia
, since most cases result from unexpected new mutations. Doctors may treat some children with growth hormone, but this does not significantly affect the height of the child with achondroplasia. In some very specific cases, surgeries to lengthen legs may be considered.
Is achondroplasia a disability?
Social Security has no dedicated listing for Achondroplasia
, but people suffering from the side effects of it can be disabled by pain and lack of functioning in the joints. Additionally, for children with growth problems, SSA does have rules which apply to a “failure to grow.”
How does achondroplasia affect a person’s life?
Affected patients experience
various orthopedic and neurological complications
and might face multiple medical and non-medical challenges in their daily life [5,6,7,8]. Adult patients reported physical and mental impairments as well as lower quality of life and lower self-esteem than healthy relatives [9, 10].
Can two normal parents have a child with achondroplasia?
When both parents have achondroplasia, the chance for them, together, to have a child with normal stature
is 25 percent
. Their chance of having a child with achondroplasia is 50 percent.
Is achondroplasia inherited from mother or father?
Achondroplasia occurs as a result of a spontaneous genetic mutation in approximately 80 percent of patients; in
the remaining 20 percent it is inherited from a parent
.
Can achondroplasia be passed onto offspring?
Achondroplasia can be inherited through autosomal dominance. In couples where one partner has
achondroplasia there is a 50% chance of passing the disorder onto their child every pregnancy
.
What is the prognosis for achondroplasia?
Survival. Most of those with achondroplasia will have
a normal or near normal life expectancy
. However, there is an increased risk for premature death [107,108,109] related not only to sudden unexpected deaths in infancy (see below) but also, it appears, to cardiovascular complications in mid-adult life [108].
How is achondroplasia normally diagnosed?
Achondroplasia can be
diagnosed before birth by fetal ultrasound
. This test uses sound waves and a computer to create images of the baby growing in the womb. DNA testing can also be done before birth to confirm fetal ultrasound results. The condition can also be diagnosed after birth with a physical exam.
What body systems are affected by achondroplasia?
Achondroplasia is a genetic disorder affecting
bone development
that results in short-limb dwarfism. Achondroplasia is the most common form of short-limb dwarfism, a disorder in which bone tissue does not develop properly, especially the long bones of the arms and legs.
How does achondroplasia affect the brain?
Approximately 20-50% of all children with achondroplasia will experience a neurological impairment. This is caused by
compression
created as they literally grow faster than their bones. The stunted bone growth at the base of the skull and the spine can cause the spinal cord and brain stem to become compressed.
Is being under 5 foot a disability?
Can you get a handicap sticker for being under 5 feet?
Being short is not generally considered a disability
. Under the Americans with Disabilities Act (ADA), for a person to qualify as disabled, they need to have an impairment that creates great obstacles in completing and participating in major life activities.
What can be done for a person with achondroplasia?
- Spinal fusion to stabilize the spine.
- Spinal decompression to free up the compressed spinal cord or nerve roots.
- Guided-growth surgery and/or osteotomy (cutting bone) to correct uneven growth or abnormal rotation of the bones.
- Limb-lengthening surgery to add length in the legs or arms.
