There are over 450 types of dwarfism. Achondroplasia is the most common type of dwarfism and approximately one in 25,000 are diagnosed with this disorder. Achondroplasia literally means ‘no cartilage growth’ and as a result children diagnosed with this condition have short stature with abnormal bone growth.
Cartilage is the precursor of most bones, such as the arm and leg bones, and the base of the skull and the spine. Thus, these are the areas that are most affected by the disorder. Children who have achondroplasia have short stature and typically only grow to be slightly over 4 feet tall.
Doctors may be able to diagnose dwarfism before a baby is born through an ultrasound, but only if it is performed in the latter part of pregnancy. The ultrasound will show if a baby’s arms and legs are shorter than average. Other diagnostic methods may include:
Appearance: Because dwarfism has many distinct facial and skeletal features, your child’s appearance may help your doctor in making a diagnosis.
Family history: Your doctor may take a stature history in grandparents, parents and siblings to help determine the average range of height in your family and if short stature is present. These conditions are often inherited.
Genetic testing: Genetic tests are used to diagnose many types of dwarfism-related disorders. Your doctor may suggest genetic testing if they are not clear about the type of dwarfism your child may have.
Measurements: During well-baby examinations measurements of your child’s head circumference, weight and height are taken and compared against the percentile ranking and expected future growth. If there are any trends in your child’s measurements, more can be taken over a specific period of time to determine if they have dwarfism.
Symptoms of achondroplasia may include:
A thorough evaluation by one of our pediatric orthopedic physicians and/or geneticists will help determine the best course of care for your child. Our physicians are focused on providing treatments that reduce problems or complications that your child may have and preventative care to limit potential issues in adulthood. Most treatments for dwarfism do not increase stature, however, by using a collaborative approach to care, our team of specialists work to manage symptoms and improve overall quality of life.
Depending on your child’s unique needs, our providers may recommend surgery to treat the orthopedic effects of dwarfism. This may include treatments for kyphosis, bowing of the legs, or other problems.
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