Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns.

Is a form of short-limbed dwarfism. The word achondroplasia literally means “without cartilage formation.”  Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development.  However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs.  Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

All people with achondroplasia have short stature.  The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead.  Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.  People with achondroplasia are generally of normal intelligence.

Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  About 80% of people with achondroplasia have average-size parents, these cases result from new mutations in the FGR3 gene.  In the remaining cases, people with achondroplasia have inherited an altered FGR3 gene from one or two affected parents.  Individuals who inherit two altered copies of this gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage.

Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections.  In childhood, individuals with the condition usually developed a pronounced and permanent sway of the lower back (lordosis) and bowed legs.  Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain. A potentially serious complication of achondroplasia is spinal stenosis, which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord.  Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking.  Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a building of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.

Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.

As new drug applications are in the pipeline for achondroplasia, keeping in touch with the MAGIC Foundation will enable you to follow the progress.  The goal of new therapy is to lessen the overall complications, not just height. Additionally, through the foundation, groups are available to communicate with other families of children with achondroplasia.

Treatment Options

• VOXZOGO is a prescription medicine used to increase linear growth in children with achondroplasia who are 5 years of age and older with open growth plates (epiphyses). To learn more about VOXZOGO, visit https://www.voxzogo.com/   

Kristen's Personal Story

Born with the most common form of dwarfism, achondroplasia, I never wanted my disability to define me. As a young child, I promised myself I would go through life being happy and proud of who I am, never letting the actions or words from others tear me down. Wishful thinking. Being ‘different’ has been difficult at times, yes. Judgements passed by others can cut deep. But I’ve also come to learn that I am far more than my physical body.

Early on in life, I had several complications characteristic of my form of dwarfism. Surgery was in my immediate future whether I liked it or not. At the age of twelve, after my options had been weighed, I made the decision to go through with a series of surgeries known as extended limb lengthening. It was a shot in the dark, I didn’t personally know anyone who had ever gone through any form of extended limb lengthening before but my heart told me that it was the right decision for me.

Four years later I found myself standing thirteen inches taller, a whole lot straighter, experiencing minimal pain and totally independent. My world had changed for the better, and it wasn’t just because I was taller, functional and independent. The journey also changed me. After I graduated high school, I chose to spread my wings and flew as far as I could from the nest to fully embrace my newfound independence.

Once I graduated college, a new journey began. Writing became an outlet and a simple way to keep friends and family updated on the path I was walking. Thus, the beginning of ‘Little Legs, Big Heart,’ my recently published memoir about growing up with achondroplasia.

As I have continued to share my honest journey and grow as an individual, my support system has also grown. Everyone I have come to know, the experiences I’ve had and the challenges I have overcome are undoubtedly the reason I am the woman sitting here sharing her light. One of the most incredible aspects of this life has been the realization that I was put on this earth to help others who need the reminder that beauty does not exclude, it includes. Beauty is being you. Beauty is for all of us.

Living with dwarfism is a lifelong journey and the consequences come with the territory. At the age of twenty nine, I unexpectedly lost feeling and sensation in my legs. The pain that rattled my soul suit (my fancy term for human body) would not have registered on the Richter Scale. After multiple doctors visits, I was diagnosed with spinal stenosis and told to do physical therapy. After a year, my pain had worsened and I could barely walk. By the time I found the man who would essentially save these little legs, I was paralyzed. After twelve surgeries and countless hours of rehabilitation, it has been a long journey back to living life on my own two feet.  Now, here I am, a published author, patient advocate and division consultant for the MAGIC Foundation.

Life is short and so are my legs. Here’s to accepting life as it unfolds, persevering challenges and growing from the experience.

For author, speaker and advocate Kristen DeAndrade, it doesn’t matter how long your legs are. You can only take one step at a time. Born with achondroplasia, dwarfism, she chronicles her personal journey of facing challenges and breaking barriers in Little Legs, Big Heart. Through diary entries from her childhood journal, combined with a humorously, honest narrative, she shares her sheer determination growing up in the face of adversity and undergoing multiple medical procedures, including extended limb lengthening, which she opted to brave at the age of twelve. Narrating both the physical and emotional challenges, DeAndrade offers a look at her strength in facing her challenges head-on in a story filled with both integrity and interminable sass. Little Legs, Big Heart journeys through tears, laughter, devastation, and hope as it tells about a girl on a mission to find her identity. It gives a new perspective on life’s challenges and shows the world how to meet the varied demands of life with grit and grace.

Link to purchase book: https://www.amazon.com/dp/B07N81P545?ref_=k4w_oembed_RAHDPwCN8mb6uy&tag=kpembed-20&linkCode=kpd

Kristen's website: www.littlelegsbigheart.com

Resources

»  Download a printable version of the Achondroplasia brochure 

»  Click here for an article, written in laymen's terms, on "Progress for Pharmaceutical Treatment of Achondroplasia"

»  Click here for member benefits or to join The MAGIC Foundation

»  "LIKE" The MAGIC Foundation's Facebook page

»  Join our private Facebook page for Achondroplasia families, click here to join

»  Would you like to speak to someone about Achondroplasia? If so, call The MAGIC Foundation at 800-3MAGIC3 or (630) 836-8200 or Email Us

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