An inheritable, short limbed, disproportionate form of dwarfism caused by the body’s inability to convert cartilage into bone, especially in the long bones.
My approach to achondroplasia takes into account what is the most common problem that patients often suffer from, and the reason for disability later in life, the impact of spinal stenosis. Beginning at infancy, from the avoidance of having an achondroplastic infant sitting upright to prevent kyphosis (round back), to the evaluation of sleep apnea in infancy to determine if there is a need for ear, nose and throat work, to neurosurgical work to decompress the foramen magnum (open the area at the base of the brain where the spinal cord exits from the skull).
These early interventions will have an impact on the achondroplastic individual’s life forever. Yearly, and extending into adulthood, asking related questions is very important to determine if treatment is needed.
As they get older, being certain their legs are straight to avoid later arthritis and discussing the desire or possibility of stature lengthening with the patient and their family is important. After they are made aware of the projected height and the risks and benefits of limb lengthening, I rely on the patient and family to decide.
Lastly, this approach requires the expertise of multiple types of healthcare professionals, including subspecialist physicians, physical therapists, occupational therapists and child life specialists, who all play a major role in the outcome for the patient. In many locations this type of care is not available, but at the Paley Institute, we have these specialists integrated into our program, and also additional patient care coordinators who help to navigate all the logistical issues in the uprooting of families for care. There is even a residence, the Quantum House, on the campus of the hospital, where families can reside and be supported in many ways.
From My Patients
Kristen’s Patient Story
Achondroplasia is inherited as a dominant trait. Eighty percent of cases, however, are due to a genetic mutation where neither parent has achondroplasia.
Achondroplasia can be diagnosed before birth with an ultrasound or amniocentesis. After birth, characteristic features can be confirmed by x-ray.
Yearly x-rays and asking questions, beginning in childhood and continuing throughout the patient’s life, are important in determining if treatment is needed.
Deformity correction is performed to avoid arthritis later in life and involves straightening of the lower legs (tibia and fibula) and/or straightening of the forearm (radius and ulna). In addition, if the patient is experiencing instability in the knee, this can also be corrected.
Limb lengthening is a personal decision to be made by the patient and their family. Any person interested in lengthening should ensure they elect to have it done at a specialized center with extensive experience. Long bone lengthening and/or deformity correction of the upper and lower extremities, with my team and me, at the Paley Orthopedic and Spine Institute can be done safely and reliably with impressive results.
I treat individuals with Achondroplasia from around the world and of all ages and spinal stenosis, with its inherent pain, weakness and eventual bladder and bowel dysfunction, is the most common complaint and reason for disability. From an eight year old boy living in constant pain who could not sit, to a 60 year old woman who can no longer walk in her house, spinal stenosis impacts all ages, in Achondroplasia. IT IS PREVENTABLE AND TREATABLE.
Yearly examinations and discussions of symptoms are required. If symptoms are occurring, even mild, an MRI will demonstrate the extent and location of the spinal compression. Surgery to decompress the stenosis to unroof the compression is often curative.
A spinal fusion is necessary if the decompression requires removal of the joints or if there is kyphosis (hunch back), as often encountered in Achondroplasia. I often hear, "Oh, not a fusion -- that is terrible," but that is completely untrue. When performed correctly and for the right indications, it allows the individuals to return to normal. It is not simple and recovery can take months to a year but it is often the only way to avoid ending up with a terrible spinal deformity after decompression. In order to enhance the fusion, I now do a minimally invasive side surgery at the same time at the lowest level to assure fusion, which is a problem when so much bone is removed to decompress. To decompress I utilize an ultrasonic scalpel which is more accurate, safer and involves much less blood loss.
Below is a questionnaire that we administer to all of our Achondroplastic patients and none of us at the Paley Institute would lengthen a patient until their spine is cleared.
Achondroplasia Spine (slides)
Deformity Correction and Lengthening
The Achondroplastic Spine
Spinal Fusion and Decompression in Achondroplasia
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