Achondroplasia

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

My approach to achondroplasia takes into account what is the most common problem and the reason for disability later in life. These patients often suffer from the impact of spinal stenosis. This is taken into consideration 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, asking questions that are related is very important to determine if treatment is needed. This extends into adulthood.

This approach then morphs into the need of the patients as they get older. Being certain their legs are straight to avoid later arthritis and discussing the possibility of stature lengthening. Determining the desire for this with the patient and the family is important. I rely on the patient and family to decide, after they are made aware of the projected height and the risks and benefits of limb lengthening.

Lastly, this approach requires the expertise of multiple different types of healthcare professionals. Subspecialist physicians, physical therapists, occupational therapists and child life specialists all play a major role in the outcome for the patient. In many places this is simply not available or not available enough. At the Paley Institute, we have all of this integrated into our program with additional patient care coordinators helping to navigate all the logistical issues in the uprooting of families for care. There is even a residence (Quantum House) on the campus of the hospital, where families can reside and be supported in many ways.



From My Patients



Cause

Achondroplasia is inherited as a dominant trait. Eighty percent of cases, however, are due to a genetic mutation where neither parent has achondroplasia.



Diagnosis Methods

Achondroplasia can be diagnosed before birth with an ultrasound or amniocentesis. After birth, characteristic features can be confirmed by x-ray



Resources

Presentation

Related Resources

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