Achondroplasia medications & treatments
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Get started todayAchondroplasia is a rare genetic disorder that occurs in approximately 1 in 25,000 live births each year. It is the most common form of skeletal dysplasia, accounting for 90% of cases of disproportionate short stature (dwarfism). Advanced paternal age is a known risk factor with an estimated rate of 1 in 1,875 in children of fathers over the age of 50. People with achondroplasia typically have a normal lifespan and normal intelligence despite delayed development during infancy.
What is achondroplasia?
Achondroplasia is an inherited disorder of bone growth that prevents the conversion of cartilage into bone, particularly in the long bones of your arms and legs. The average height for men with achondroplasia is 4 feet, 4 inches (131 cm), and the average height for women is 4 feet, 1 inch (124 cm).
Achondroplasia causes
Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Two specific mutations in this gene are responsible for almost all cases of achondroplasia. Achondroplasia is inherited in an autosomal dominant pattern, meaning only one parent needs to pass down the gene for a child to be born with this condition. However, most cases are not inherited. In approximately 80% of cases, achondroplasia results from a spontaneous mutation that occurs in the developing embryo.
How is achondroplasia diagnosed?
Diagnosis of achondroplasia can be confirmed by the following:
- Physical examination
- Genetic testing for the FGFR3 gene mutation
- Ultrasound to identify characteristics such as an abnormally large head
- X-rays to measure the length of your infant’s bones
- MRI or CT scan to check for brain stem or spinal cord compression
Achondroplasia symptoms
The most common symptoms of achondroplasia include:
- Short stature
- Short limbs, particularly the upper arms and thighs
- Large head size (macrocephaly)
- Prominent forehead (frontal bossing)
- Midface hypoplasia with a flattened nasal bridge
- Overcrowded teeth
- Curving of the lower back (lumbar lordosis)
- Hunchback (kyphosis)
- Extra space between the middle and ring fingers (trident hand)
- Bowed legs
- Elbow stiffness
- Poor muscle tone (hypotonia)
- Recurrent middle ear infections
- Delayed developmental milestones, like sitting, standing, and walking
What are some achondroplasia treatment options?
Currently, there is no cure for achondroplasia. There is only 1 medication approved to treat this condition in children. Most other treatments are used to relieve complications due to achondroplasia.
Medications
- Voxzogo (vosoritide). This is the first FDA-approved medication for children with achondroplasia. It is used to increase linear growth in pediatric patients who are at least 5 years of age with open growth plates.
- Treatment with growth hormone does not largely affect the height of a person with achondroplasia.
Other treatments
Achondroplasia can cause certain health problems, which may require treatment, such as:
- Surgery or continuous positive airway pressure (CPAP) machines to treat obstructive sleep apnea.
- Surgery to place a ventricular shunt to treat a build-up of fluid in the brain (hydrocephalus).
- Children who have recurring ear infections may have tubes placed in the eardrums.
- Decompression or fusion to treat spinal stenosis and spinal cord compression.
- Braces to help correct upper spine curvature (kyphosis).
- Surgical removal of the adenoids and tonsils.
- Dental procedures to fix misaligned teeth.
- Limb lengthening of the arms and legs
- Osteotomy to straighten the bones in the leg
What is the best medication for achondroplasia?
The best medication for the treatment of achondroplasia will depend on the individual’s specific medical condition, medical history, medications that the individual is already taking that may potentially interact with achondroplasia medications, and the individual’s potential response to the treatment. It is advisable to always speak with your healthcare provider about the best medication for you. The table below includes a list of the most prescribed or over-the-counter achondroplasia medications approved by the Food and Drug Administration (FDA).
Best medications for achondroplasia
| Drug name | Drug class | Administration route | Standard dosage | Common side effects |
|---|---|---|---|---|
| Voxzogo (vosoritide) | C-type natriuretic peptide | Injection | The dose is a weight-based injection that is given under the skin once daily. | Injection site reactions, vomiting, joint pain, decreased blood pressure, diarrhea, dizziness |
Your healthcare provider will determine the right dosage based on your response to the treatment, medical condition, weight, and age. Other possible side effects may exist; this is not a complete list.
What are the most common side effects of achondroplasia medications?
Voxzogo (vosoritide) commonly causes injection site reactions, vomiting, joint pain, decreased blood pressure, diarrhea, and dizziness.
What are some home remedies for achondroplasia?
Although a gene mutation causes achondroplasia, most cases occur in families with no history of achondroplasia. It is a spontaneous mutation that cannot be predicted or prevented. If at least 1 parent has achondroplasia, a genetic counselor can provide information about the possibility of passing the condition on to your child.
You may need to make some changes to help with everyday living. This includes lower chairs, light switch extenders, and step stools. You should have regular monitoring to help with your overall health as well as to detect and treat any health problems right away.
Frequently asked questions about achondroplasia
What are some complications of achondroplasia?
If you have achondroplasia, you are also prone to the following complications:
- Recurrent ear infections, which can lead to hearing loss
- Elbow stiffness, which often limits your ability to fully straighten your arms
- Breathing problems such as obstructive sleep apnea
- Obesity
- Excess fluid on your brain (hydrocephalus)
- Narrowing of the spinal canal and other deformities
- Misalignment and crowding of your teeth
- Bowed legs
- Neurologic complications due to spinal cord compression
Where can I find information on support groups for achondroplasia?
Being physically different from others can be difficult for people with this condition. Connecting with others affected by achondroplasia can provide children and their families with friendship, support, and advice. For more information, visit:
What is the life expectancy of someone with achondroplasia?
While there is a slight increase in mortality rates for infants and children under 2 years of age with achondroplasia, it returns to normal after this period has passed.
Is achondroplasia considered a disability?
People with achondroplasia can live a normal life although they may have complications they have to deal with. However, it is a recognized condition under the Americans with Disabilities Act.
Can you give birth to a child with achondroplasia if you are of average height?
Yes, more than 80% of children with this condition have average-height parents and siblings.
Related resources for achondroplasia
- Pathophysiology of achondroplasia. StatPearls, National Library of Medicine
- Achondroplasia. Columbia, neurosurgery
- Disease at a glance, achondroplasia. Genetic and Rare Diseases Information Center
- What is achondroplasia? National Human Genome Research Institute
- What is achondroplasia? Healthline