Achondroplasia

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Achondroplasia

Achondroplasia (pronounced: ah-kon-droh-PLAY-zee-uh) is a genetic disorder that is a common cause of dwarfism. It is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with a prominent forehead (frontal bossing) and midface hypoplasia.

Etymology

The term "achondroplasia" comes from the Greek words "a" meaning without, "chondros" meaning cartilage, and "plasia" meaning formation. Thus, achondroplasia can be translated as "without cartilage formation," which is a misnomer since individuals with achondroplasia do have cartilage, but their cartilage does not convert to bone in the usual way.

Causes

Achondroplasia is caused by a mutation in the FGFR3 gene, which provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. This mutation causes the protein to be overly active, which interferes with skeletal development and leads to the characteristic features of achondroplasia.

Symptoms

Symptoms of achondroplasia can vary and may include:

  • Short stature with disproportionately short arms and legs
  • Large head with prominent forehead and flat nasal bridge
  • Spinal stenosis, which can lead to breathing problems and paralysis
  • Bowed legs
  • Limited range of motion at the elbows
  • Dental problems due to crowded teeth

Diagnosis

Diagnosis of achondroplasia can often be made based on physical features alone. However, genetic testing can confirm the diagnosis by identifying the mutation in the FGFR3 gene.

Treatment

There is currently no cure for achondroplasia. Treatment focuses on managing the symptoms and preventing complications. This may include surgery to address spinal stenosis or bowed legs, physical therapy to improve mobility, and special education services for learning disabilities.

Related Terms

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