What are the Symptoms of Achondroplasia?

Achondroplasia is a genetic disorder that affects bone growth and results in dwarfism. The symptoms of achondroplasia can become apparent in early childhood and may include:

  • Short Stature: One of the most characteristic features of achondroplasia is short stature. Affected individuals have a height significantly below average for their age and may have shortened limbs and trunk.
  • Proportionate Dwarfism: Individuals with achondroplasia typically have normal-sized torsos but shorter arms and legs, which can give a disproportionate appearance.
  • Enlarged Head: Some people with achondroplasia may have a larger-than-average head size, with a prominent forehead and a flattened nasal bridge.
  • Short Fingers: The fingers of individuals with achondroplasia are often short and may have a characteristic “trident” hand appearance, with a gap between the middle and ring fingers when the hand is outstretched.
  • Short Neck: A short neck with limited range of motion is common.
  • Gait Abnormalities: Some individuals may have a waddling or bow-legged gait due to the shortened limbs.
  • Spinal Issues: Achondroplasia can lead to orthopedic problems, including spinal stenosis, which can cause compression of the spinal cord and nerve roots, leading to pain and neurological symptoms.
  • Breathing Difficulties: In infancy and early childhood, some children with achondroplasia may experience breathing difficulties due to the narrowing of the airways.
  • Recurrent Ear Infections: Eustachian tube dysfunction can lead to an increased risk of ear infections.
  • Normal Intelligence: Individuals with achondroplasia typically have normal intelligence and normal life expectancy.

It’s important to note that achondroplasia is caused by a mutation in the FGFR3 gene and is typically inherited in an autosomal dominant pattern, meaning one copy of the mutated gene is sufficient to cause the condition. Most cases of achondroplasia occur sporadically due to new mutations in affected individuals, although it can be passed from a parent to their child.

Achondroplasia is usually diagnosed shortly after birth or during infancy based on the characteristic physical features and radiographic imaging of the bones. There is no cure for achondroplasia, but various medical and surgical interventions can help manage and improve the quality of life for individuals with this condition. Treatment may involve addressing orthopedic issues, managing ear infections, and monitoring the spine for potential complications. Consultation with a geneticist and a pediatric orthopedic specialist is often recommended for individuals with achondroplasia to develop a comprehensive care plan.