Achondroplasia is a genetic disorder that causes short stature called dwarfism and a large head, also known as macrocephaly. It is a disorder in which bone and cartilage do not grow normally. It is the most common cause of dwarfism.
This condition leads to patients reaching a full-grown height of less than four feet. The greatest shortening occurs in the bone between the shoulder and the elbow and the bone between the hip and the knee. There may also be underdevelopment of the face.
Achondroplasia is a genetic disorder. It is caused by mutations in the FGFR3 gene. This gene prevents the growth of cartilage at the growth plate. FGFR3 encodes a protein called Fibroblast Growth Factor Receptor 3. This protein is the site of action of a major growth factor responsible for lengthening bones. When this growth factor cannot act properly due to the absence of its receptor, the growth of bones, at the growth plate's cartilage, is slowed. This leads to shorter bones, abnormally shaped bones, and shorter stature.
The gene for achondroplasia can be passed from one generation to the next. If a parent has the disorder, there is a 50% chance of passing the gene for achondroplasia to children. In most cases of achondroplasia, it more commonly is the result of a sudden genetic defect that occurs in the developing embryo.
Those at risk of inheriting achondroplasia are: Children of a parent with achondroplasiaChildren of normal-sized parents who carry a mutated FGFR3 geneAdvanced paternal age causing spontaneous mutations
Symptoms of achondroplasia include: Short stature, a long trunk, and shortened limbs, which are noticeable at birthAn adult height of between 42-56 inchesA head that is large and a forehead that is prominentPortions of the face can be underdevelopedAt birth, the legs appear straight, but as a child begins to walk, he or she develops a knock-knee or bowed-leg deformityThe hands and the feet appear large, but the fingers and toes are short and stubbyStraightening of the arm at the elbow may be limited, but usually does not keep a patient from doing any specific activitiesChildren may develop an excessive curve of the lower back and a waddling walking patternDental problems
Other common symptoms include: Weight control problemsDental problems from overcrowding of teethNeurologic and respiratory problems
Fatigue, pain, and numbness in the:
The doctor will ask about your symptoms and medical history. A physical exam will be done. The strength of your extremities and your bladder control will be evaluated. Weakness and loss of bladder are both signs of spinal stenosis, which is a narrowing of the spinal canal. It is important to follow the doctor's advice to make sure that
does not develop.
Your bodily fluids may be tested. This can be done with blood tests.
Images may be taken of your bodily structures. This can be done with: RadiographsX-raysMRI scanCT scan
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Unfortunately, there is currently no treatment that can cure this condition.
Scientists are exploring ways to create alternate growth factors which can bypass the missing receptor and lead to normal bone growth. They may offer the possibility of enhanced stature to future families who have children with achondroplasia.
Treatment with human growth hormone has been used for over a decade. It effectively increases bone growth rate, at least in the first year of life. There have been few studies looking at whether children treated with growth hormone achieve greater adult height.
Surgery is sometimes needed to correct specific skeletal deformities. Spinal fusion
—a surgery to permanently connect otherwise separate vertebrae
—a surgery to open the spinal canal to relieve pressure on the compressed spinal cord from
spinal stenosisOsteotomy—the bones of the leg are cut and allowed to heal in the correct anatomical position. This procedure is for patients with severe knock-knee or bowed legs.
Osteotomy has primarily been used to correct deformities. In recent years, bone lengthening procedures have been used for many short children, including those with achondroplasia. The procedures are lengthy, traumatic, and demanding for both children and their families. Complications, sometimes serious, are common. One center has reported an average leg length gain of about seven inches and an average increase in arm length of about four inches for achondroplastic individuals who undergo surgery. The combination of growth hormone therapy followed by lengthening surgery may provide benefit in achieving near-normal stature and proportions.
There are no steps to prevent a genetic disorder. Genetic counseling can be used to discuss the chances that your child will have achondroplasia. You may consider this counseling if you are planning on having a child and have a family history of genetic conditions.
Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients.
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Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia--genetic short limbed dwarfism.
Curr Drug Targets
Last reviewed July 2013 by Kari Kassir, MD; Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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