Achondroplasia is a genetic bone disorder, affecting one in 20, babies. It is the most common type of dwarfism in which the child's arms and legs are short in proportion to body length.
The head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches or 4 feet, 4 inches , and the average height of adult females with achondroplasia is 49 inches or 4 feet, 1 inch. The following are the most common symptoms of achondroplasia, but each child may experience symptoms differently:. In some cases, the child inherits the achondroplasia from a parent with the disorder but most cases — about 80 percent — are caused by a new mutation in the family.
If only a single nerve root is compressed, children may experience pain, numbness or weakness in a specific arm or leg. They may seem to prefer using one hand over another very early as babies, or complain of pain in their back or affected arm. In more severe cases, the entire spinal cord can be compressed, causing weakness and numbness in the entire body below the spinal cord pinch, as well as a loss of bowel and bladder control.
Infants should be monitored closely for the first two years of life and then followed every one to two years, to be evaluated for complications. In providing care for children with achondroplasia, doctors will periodically take X-rays to monitor the position of the spine and lower extremities.
MRI scans of the brain and spine help doctors spot development of spinal stenosis , and CT scans are occasionally ordered to visualize the vertebrae in the spine. Treatment for spinal stenosis might include decompression and fusion.
Treatment for lower extremity misalignment might include surgery to correct the limbs. The structural integrity of the neck and spinal column are not compromised in these procedures, and patients tend to do very well. Because children are continuing to grow, they may require additional decompressions.
Surgical decompression is most successful when performed quickly, since compression problems can become permanent over months or years if untreated. A child with achondroplasia who has developed hydrocephalus may require a ventriculoperitoneal shunt. Prompt identification and modern medical interventions for children with achondroplasia can optimize their chance for a whole and happy life. Most cases of achondroplasia are from a new gene mutation in families.
This means the parents are average height and do not have the abnormal gene. Having a parent with achondroplasia increases the risk of being born with the condition. But most babies born with the condition do not have a family history of it. The signs of achondroplasia can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.
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. You can track your child's growth for any signs of slowing. Certain exercises to strengthen your hamstring, glutes, and core can help improve lordosis posture and ease pain. Try these five! Caudal regression syndrome, or sacral agenesis, is a rare condition where the lower spine doesn't fully form before birth. Here's what you should know. Mermaid syndrome is a severe and often fatal congenital abnormality involving fused limbs, which have been described as resembling a mermaid's tail.
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Learn about the symptoms, causes, and treatment. Health Conditions Discover Plan Connect. Medically reviewed by Daniel Murrell, M.
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