10 achondroplasia facts to note

Woman researching achondroplasia facts

Achondroplasia, a term meaning “without cartilage formation,” is a genetic disorder leading to disproportionate short stature. Sometimes called achondroplastic dwarfism or ACH, this condition has few treatment options and no known cure. However, individuals diagnosed with this condition can typically lead fulfilling, healthy lives with proper management.

Learning about achondroplasia is key to gaining better insight into the condition, its origins, and what those diagnosed can anticipate. Read on to learn more.

10 facts about achondroplasia

  • Though it is a rare condition, achondroplasia occurs in one out of every 40,000 births, making it the most common type of skeletal dysplasia
  • The average height for an adult male with achondroplasia is 4’4”, and the average height for an adult female is 4’1”.
  • Though achondroplasia is caused by a genetic mutation, only around 1 in 5 cases are hereditary
  • Over 80% of individuals with achondroplasia have parents who are unaffected
  • Common symptoms of achondroplasia include short stature, a narrowing of the spinal canal, ear, nose, and throat problems, and a bowing of the legs
  • Complications from achondroplasia can include common ear infections, misaligned teeth, elbow stiffness, and sleep apnea
  • The cause of achondroplasia symptoms is due to bone tissue not developing properly, especially in long bones such as the arms and legs
  • Children are typically diagnosed with achondroplasia when the characteristic features are recognized at birth, but it is sometimes diagnosed due to an ultrasound scan
  • People living with achondroplasia typically have a normal lifespan as long as they remain active and healthy
  • Achondroplasia treatment options remain scarce, but some children benefit from growth hormones 

While significant progress has been made in comprehending achondroplasia, there’s much more to learn about the condition and its impact on individuals. Fortunately, ongoing research seeks to delve deeper into the causes, symptoms, and lifestyle implications of achondroplasia. The participation of volunteers is vital to move research forward. To learn more about current achondroplasia clinical trials in your area, click the link below to get started.