What is Achrondroplasia...
Achrondroplasia is the most common type of dwarfism. Approximately 1 and 20,000 people have this disease.
It is a genetic disorder that effects the skeleton and does not allow the bones to grow properly. Achrondroplasia
interferes with the process of changing cartilage to bone. The result is people with achrondroplasia are shorter than
the average human being. These people usually have short limbs, yet their head and trunk are normal size.
How is Achrondroplasia passed on genetically...
Achrondroplasia is a autosomal dominant disorder which means it only takes one parent to pass on the disease.
It is possible to get Achrondroplasia by inheritance or more commonly from a new mutation that occurs on the fourth chromosome
in the "fibroblast growth factor receptor gene 3". About 90% of the cases are the result of a new mutation, whereas
only 10% come from inheriting the mutated gene. If just one parent has the mutated gene, there is a 50% chance of passing
the mutated gene to the offspring. If the parents both have the mutated gene, there is a 75%
chance that the child will inherit the gene and a 25% chance that the child will inherit the gene from both parents and
die at birth or within the first year. Males and females are both equally likely to get the disease, but unlike other
genetic diseases, the older the father, the greater the proabablity that his offspring will inherit the mutated gene.
What are the symptoms and physical affects of Achrondroplasia...
There are numerous symptoms and physical affects of Achrondroplasia dwarfism, and many of these symptoms
are present at birth:
- Short stature (average heigh for adult female- 4 ft. 1 in.; average height for adult male-
4ft. 4 in.)
- Unusually short limbs (especially the upper arms and thighs)
- Large head size
- Hypoplasia of the face that includes a prominent forehead and a flat, constricted nasal bridge
- Abnormal space between middle finger and ring finger
- Short toes and fingers
- Curvature of the spine known as Kyphosis or Lordosis
- Distinguished walk (waddling gate)
- Bowed legs known as Varus
- Hypotonia- infants often have this decrease muscle tone causing limbs to appear floppy
- Polyhydramnios- condition that causes excessive amniotic fluid to develop around the fetus
- Dental problems caused by overcrowding
- Temporary hearing loss due to frequent ear infections
- Slow speech development at early years due to hearing loss
- Hydrocephalus- condition where excess fluid builds up in the skull as the result of the abnormally small openning
at the base of the skull
- Weight gain
- Muscle strain because the body is not proportional
This disease does not affect the mental capacity of the brain!
Is there any way to detect Achrondroplasia...
The mutated gene can be easily detected. Genetic counseling is available to discuss the
chances of having a child with Achrondroplasia. Prenatal diognosis is possible by doing a DNA test on a placenta sample
or by performing a fetal ultrasound looking at bone lengths. After birth, a skull x-ray or x-ray of long bones can confirm
the diagnosis of Achrondroplasia. Doctors also look for the obvious signs or symptoms of Achrondroplasia which are listed
above to diagnose this disorder. Many of these symptoms are apparent at birth.
Are there any cures or treatments for Achrondroplasia...
There is no cure or treatment for Achrondroplasia at the present time. It is a fact that growth
harmone treatment has not been successful, but there is one alternative. There is a new surgery where they can lengthen
bones, but this is a long and painful journey. This involves at least two major surgerys and has a long recovery period.
The patient must wear painful bone braces up to 18 months. This surgery has had a success in adding an extra 10-12 inches
in height. This surgery is definately not for everyone that suffers from Achrondroplasia.
Although there are no cures or treatments, children with Achrondroplasia need to be closely monitored because
of the complications that can occur. Also children and adults with this disorder may need counseling or moral support
to help them cope with their disorder.
Is there any help and support available for people who suffer from Achrondroplasia...
There are many organizations that provide support for the victims.
- Human Growth Foundation
- Little People of America, Inc.
- Little People's Research Fund, Inc.
- MAGIC Foundation for Children's Growth
- March of Dimes Birth Defects Foundation
- NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
- Restricted Growth Association
Little People of America, Inc.
People who are afflicted with Achrondroplasia have numerous physical problems that they must deal with on
a daily basis. Because of these physical challenges, there are often psychological problems that also arise. It
is known that Achrondroplasia is caused by a mutation on the fourth chromosome. Since there is no cure or prevention,
more research is needed to better understand why this mutation occurs. If you're interested in helping those with Achrondroplasia,
you're at the right place. The goal of this organization is to raise 3 million dolars. We have come a long
way already, but we need to keep pushing towards our goal. All donations are greatly appreciated and are tax deductable.
If you would like to help, please contact us at...
5289 Northeast Elam Young Parkway
Hillsboro OR 97124
or call us at...
503-846-1562
or follow this link to our website...
