Achondroplasia – which literally translates to “without cartilage formation” – is a genetic disorder that results in dwarfism, meaning that a child who has achondroplasia will never achieve the same average height status as his or her peers. Achondroplasia is a congenital condition, meaning that children are born with it and usually can expect to be no taller than 4 feet 10 inches by the time they reach adulthood.
Characteristics of Achondroplasia
Achondroplasia is a genetic disorder that prevents a child’s cartilage from changing into bone as he or she matures. Those with achondroplasia present at birth with the characteristics of dwarfism, meaning they have a relatively narrow torso, short arms and legs, as well as disproportionately shorter upper arms and thighs. They will also have shorter fingers, as well as a large head and a prominent forehead.
Genetics and Achondroplasia
Achondroplasia is a rare disorder, affecting about one infant in approximately 15,000 to 40,000 births. As far as genetics are concerned, achondroplasia is considered an autosomal dominant trait, meaning that if one parent carries the defective gene, the odds are high that the child will be born with the condition. However, most children with achondroplasia are born to parents neither of whom have the condition or even the gene. With these children, achondroplasia is the result of a random genetic mutation in either the egg or sperm that creates the baby.
In utero, achondroplasia can be diagnosed via a fetal ultrasound; if the imaging reveals shorter than expected limb development or other bone problems, your child may have achondroplasia. Should this be the case, your doctor likely will recommend an amniocentesis to extract and test the amniotic fluid for any abnormalities or defects. After the baby is born, your pediatrician likely will order X-rays and a blood test to confirm achondroplasia, followed by close monitoring.
Aside from the aforementioned physical characteristics of a child born with achondroplasia, there are several orthopaedic concerns that may occur. They include –
- Spinal Cord Myelopathy – occurs when the vertebrae aren’t large enough to allow nerves to pass through. When one nerve root is compressed, it can cause pain, numbness, and a distinct weakness in the affected limbs. The worst cases present with the entire spinal cord compressed, causing weakness or numbness in the entire body from the pinch point on.
- Spinal stenosis – a narrowing of the spine that places pressure on the nerves and spinal cord, resulting in lower back pain, problems with urination and weakness, and tingling sensations in the legs.
- Lordosis – similar to scoliosis, but the curvature of the spine is inward, curving at the lower back.
- Kyphosis – a small hump found in the upper back; this may be the result of poor muscle tone and can get worse with time.
When to See Your Orthopedist
People born with achondroplasia can live happy, healthy lives. However, their condition requires close monitoring, especially if there are complications or pain. In these cases, an orthopedist can provide a variety of treatment options to strengthen and realign areas of the musculoskeletal system. For example, with kyphosis, your orthopedist may recommend a back brace or surgery; with lordosis, physical therapy can be effective in strengthening the spine and the core muscles that support it. With pinched nerves, pain management protocols, such as epidurals or facet blocks may be recommended.
Orthopaedic Experts in Central Maryland
For more than five decades, the orthopaedic specialists at the Orthopeaedic Associates of Central Maryland have served the people of Central Maryland, providing cutting-edge orthopaedic care and pain management for every bone in your body. If you or your child was born with achondroplasia or any other musculoskeletal condition, or if you require care for an injury, pain, or chronic condition, call us today at (410) 644-1880 or request an appointment online.