What is Achondroplasia? Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It’s the most common type of disproportionate dwarfism. The disorder occurs in approximately 1 in 25,000 live births, according to Columbia University Medical Center (CUMC). It’s equally common in males as females. What Causes Achondroplasia? During early fetal development, much of your skeleton is made up of cartilage. Normally, most cartilage converts to bone. However, if you have achondroplasia, a lot of the cartilage doesn’t convert to bone. This is caused by mutations in the FGFR3 gene. The FGFR3 gene instructs your body to make a protein necessary for bone growth and maintenance. Mutations in the FGFR3 gene cause the protein to be overactive. This interferes with normal skeletal development. Is Achondroplasia Inherited? In more than 80 percent of cases, achondroplasia isn’t inherited, according to the National Human Genome Research Institute (NHGRI). These cases are caused by spontaneous mutations in the FGFR3 gene. About 20 percent of cases are inherited. The mutation follows an autosomal dominant inheritance pattern. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia. If one parent has the condition, the child has a 50 percent chance of getting it. If both parents have the condition, the child has: a 25 percent chance of normal staturea 50 percent chance of having one defective gene that causes achondroplasiaa 25 percent chance of inheriting two defective genes, which would result in a fatal form of achondroplasia called homozygous achondroplasia Infants born with homozygous achondroplasia are usually stillborn or die within a few months of being born. If there’s a history of achondroplasia in your family, you may want to consider genetic testing prior to becoming pregnant so that you fully understand your future child’s health risks. What Are the Symptoms of Achondroplasia? People with achondroplasia generally have normal intelligence levels. Their symptoms are instead physical. At birth, a child with this condition will likely have: a short stature that’s significantly below average for age and sexshort arms and legs, especially the upper arms and thighs, in comparison to body heightshort fingers in which the ring and middle fingers may also point away from each othera disproportionately large head compared to the bodyan abnormally large, prominent foreheadan underdeveloped area of the face between the forehead and upper jaw Health problems an infant may have include: decreased muscle tone, which can cause delays in walking and other motor skillsapnea, which involves brief periods of slowed breathing or breathing that stopshydrocephalus, or water on the brainspinal stenosis, which is a narrowing of the spinal canal that can compress the spinal cord Children and adults with achondroplasia may: have difficulty bending their elbowsbe obeseexperience recurrent ear infections because of narrow passages in the earsdevelop bowed legsdevelop an abnormal curvature of the spine called kyphosis or lordosisdevelop new or more severe spinal stenosis How Tall Will My Child Grow? The average height for adults with achondroplasia is 4 feet, 4 inches for males and 4 feet, 1 inch for females, according to The Children's Hospital of Philadelphia (CHOP). It’s rare for an adult with achondroplasia to reach a height of 5 feet. How Is Achondroplasia Diagnosed? Your doctor may diagnose your child with achondroplasia while you’re pregnant or after your infant is born. Diagnosis During Pregnancy Some characteristics of achondroplasia are detectable during an ultrasound. These include hydrocephalus, or an abnormally large head. If your doctor suspects achondroplasia, genetic tests may be ordered. These tests look for the defective FGFR3 gene in a sample of amniotic fluid, which is the fluid that surrounds the fetus in the womb. Diagnosis After Your Child Is Born Your doctor can diagnose your child by looking at his or her features. The doctor may also order X-rays to measure the length of your infant’s bones. This can help confirm a diagnosis. Blood tests may also be ordered to look for the defective FGFR3 gene. How Is Achondroplasia Treated? There’s no cure or specific treatment for achondroplasia. If any complications arise, then your doctor will address those issues. For example, antibiotics are given for ear infections and surgery may be performed in severe cases of spinal stenosis. Some doctors use growth hormones to increase the growth rate of a child’s bones. However, their long-term effects on height haven’t been determined. Long-Term Outlook According to the NHGRI, most people with achondroplasia have a normal life span. However, there’s a slightly increased risk of death during the first year of life. There may also be an increased risk of heart disease later in life. If you have achondroplasia, you may need to make some physical adaptations, such as avoiding impact sports that could damage the spine. However, you can still live a full life.
Medically Reviewed by:
Jun 23, 2012
Published By: Healthline Networks, Inc.