Finding the right team for achondroplasia: Jeremy’s story
When Jeremy's parents learned he would be born with achondroplasia, they began a journey for care that ended at our Skeletal Health Center.
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What is achondroplasia?
Achondroplasia is a genetic disorder that affects the growth of bones in the body, especially the arms and legs. As a result, children with achondroplasia have arms and legs that are short in proportion to their body length. Achondroplasia is the most common type of skeletal dysplasia and is diagnosed in about 1 in 15,000 to 1 in 40,000 babies.
Symptoms & Causes
What are the symptoms of achondroplasia?
Children with achondroplasia have typical intelligence but some physical differences that may delay them reaching certain developmental milestones, such as walking. These differences can include:
- Short stature (adults with achondroplasia average between 4 feet, 1 inch and 4 feet, 4 inches)
- Shortened arms and legs
- A larger than average head with a prominent forehead and a flattened bridge of the nose
- Teeth that are crowded or misaligned
- A curved lower spine, known as lordosis
- Small back bones, which may lead to spinal cord compression later in life
- Bowed lower legs
- Short, broad, and flat feet
- An extra space between the third and fourth fingers
- Decreased muscle tone and loose joints
- Frequent middle ear infections
What causes achondroplasia?
Achondroplasia is caused by a mutation, or change, in a gene responsible for bone development. In some cases, the child inherits the genetic variation from a parent with the disorder. However, about 80 percent of cases are caused by a sudden genetic variation that occurs while a fetus is developing in the womb. This means the change in the gene is unpredictable and unpreventable and parents are of average height and do not have achondroplasia.
Diagnosis & Treatments
How is achondroplasia diagnosed?
Some cases of achondroplasia are detected before birth through fetal ultrasound if the fetus’ arms and legs appear shorter and their head appears larger than average. If achondroplasia is suspected, a prenatal blood test from the mother can be screened for certain genetic conditions that affect bone development, such as achondroplasia.
After birth, achondroplasia is diagnosed with a physical examination and other tests, including:
- Imaging, such as X-rays, MRI scans, and CT scans
- Genetic testing
What are the treatment options for achondroplasia?
Because achondroplasia can affect more than a child’s bones, treatment typically involves care from a range of different specialists. These can include:
- Endocrinologists to monitor growth
- Neurosurgeons to monitor and address possible skull and spinal concerns
- Otolaryngologists to manage chronic ear infections and hearing issues
- Orthopedists to monitor limb alignment and spine curvature
- Physical therapists to support motor development and mobility
- Sleep medicine doctors to evaluate and treat sleep apnea
- Genetic counselors for affected families and reproductive planning
Care for achondroplasia at every age
At Boston Children’s Hospital, we see newborns, children, adolescents, and young adults with achondroplasia in our multidisciplinary Skeletal Health Center. We take a team approach to care, bringing together experts in endocrinology, genetics, orthopedics, neonatology, adolescent medicine, neurosurgery, clinical densitometry (bone density testing), otolaryngology, sleep medicine, and other disciplines so that each child with achondroplasia receives a personalized treatment plan that considers all aspects of their health.
We support families from prenatal counseling through young adulthood, ensuring coordinated care and monitoring based on the latest achondroplasia-specific research and clinical guidelines.
Prenatal counseling
Through Boston Children’s Fetal Care and Surgery Center, we offer prenatal counseling and detailed information on the diagnosis and prognosis of skeletal dysplasias, helping families make informed decisions. We address diagnostic studies, potential outcomes, and family planning options, ensuring families are well-prepared for birth and ongoing care.
Newborn to age 2
We recommend clinic visits every two to three months, focused on early detection of potential complications such as foramen magnum stenosis or hydrocephalus, both of which require vigilant monitoring. During these visits, providers will check your child’s growth using special growth charts made just for babies and kids with achondroplasia. They will also assess for possible problems like:
- Narrowing at the base of the skull (foramen magnum stenosis)
- Fluid buildup in the brain (hydrocephalus)
- Ear problems
- Breathing problems during sleep
- Leg alignment
- Spine health
Ages 2 to 12
As kids get older, visits can often become less frequent. These are typically semi-annual visits to continue monitoring growth and development and ensure that interventions are timely as needed. Here, our care focuses on monitoring for orthopedic issues, hearing concerns, sleep apnea, and psychosocial and school success.
Teens and young adults
Continued oversight into adolescence and young adulthood supports transitioning to adult care with ongoing risk assessment and management. This helps catch new problems that can happen as your child gets older. One issue they might face is spinal stenosis, which is when the spinal canal narrows and causes pain or numbness. We also check for chronic pain, weight problems, sleep apnea, and hearing loss. Finding these issues early can stop serious problems and help people with achondroplasia stay healthier.
Practitioners Who Specialize In This Condition (7)
Jennifer Arnold, MD, MSc
Medical Director, Skeletal Health Center; Executive Program Director, Immersive Design Systems
Kathleen Carr, DNP, RN, APRN, CPNP
Pediatric Nurse Practitioner, Growth and Nutrition Program
