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Achondroplasia, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

What is Achondroplasia? is a growth disorder in the bones that is characterized by dwarfism and does not grow proportionally. Achondroplasia sufferers have a normal breastbone size, but the size of their arms and legs is short. The average height of adult male achondroplasia is 131 cm, while for adult women it is 124 cm. Even though his physical condition is abnormal, achondroplasia sufferers have a normal level of intelligence.

Causes of Achondroplasia

The cause of achondroplasia is a genetic mutation. Genetic mutations are permanent changes that occur in the arrangement of DNA that forms genes. In patients with achondroplasia, mutations occur in the FGFR3 gene, which is a gene that produces Fibroblast Growth Factor Receptor 3. This protein plays an important role in the ossification process, which is the process of changing cartilage into hard bones. Mutations in the FGFR3 gene cause the protein not to function normally, thus disrupting cartilage changes into bone. This condition causes the bones to grow shorter and have an abnormal shape, especially the bones in the arms and legs.

There are two causes for the FGFR3 gene mutation in patients with achondroplasia, namely:


  • Mutations that occur spontaneously. About 80% of achondroplasia is caused by gene mutations that are not inherited from their parents. Mutations occur spontaneously, but the trigger is not yet known.
  • Mutations revealed. About 20% of cases of achondroplasia are inherited from parents. If one parent has achondroplasia, the percentage of children suffering from achondroplasia is 50%. If both parents have achondroplasia condition, the risks that might occur are as follows:
    • 25% chance of being normal.
    • 50% of the chances of people having a defective gene, which will cause achondroplasia.
    • 25% is likely to inherit two defective genes, causing fatal achondroplasia.

Physical Characteristics of Achondroplasia

Since being born, babies with achondroplasia can be identified through their physical characteristics, including:

  • Short size of arms, legs, and fingers.
  • The head size is bigger, with a prominent forehead.
  • Teeth that are not parallel and close together.
  • There is a space between the middle finger and ring finger.
  • Experiencing spinal deformities can be in the form of lordosis (forward curve) or kyphosis (backward curve).
  • Narrow spinal canal.
  • O-shaped limbs.
  • Short and wide soles of the feet.
  • Weakness or weak muscle strength.

There are several health problems that may be experienced by achondroplasia sufferers, including:

  • Obesity.
  • Recurrent ear infections, due to narrowing of the canal in the ear.
  • Limitations in movement, due to a decrease in muscle tone.
  • Spinal stenosis, which is a narrowing of the spinal canal which results in nerve stress in the spinal cord
  • Hydrocephalus, which is a buildup of fluid in the cavity (ventricle) in the brain.
  • Sleep apnea, which is a condition characterized by the cessation of breathing during sleep.

Achondroplasia Diagnosis

As a first step, the doctor may conduct a search of the patient's medical history and the patient's family, as well as the overall physical examination. Achondroplasia sufferers can be seen at birth with short and disproportionate limb characteristics. To determine the diagnosis of achondroplasia can also be done during pregnancy, especially for parents who suffer from achondroplasia. Some of the investigations that can be done to detect achondroplasia include:

  • During pregnancy.
    • Ultrasound. To check the condition of the fetus in the womb and detect signs of achondroplasia, such as hydrocephalus. Ultrasound can be done through the mother's abdominal wall (transabdominal) or through the vagina (transvaginal ultrasound).
    • Detection of the mutation of the FGFR3 gene. Detection of gene mutations while still in the womb can be done by taking a sample of amniotic water (amniocentesis) or a sample of placental tissue or placenta, which is called chorionic villus sampling. However, this action risks causing miscarriage.

  • After the baby has been born.
  • DNA test. The DNA testing is done to ascertain the diagnosis of achondroplasia. The DNA testing is done by taking DNA samples from the blood and then analyzing them in the laboratory. The DNA sample is used to detect possible abnormalities in the FGFR3 gene.

Achondroplasia Treatment

Until now, there are no drugs or methods of treatment that can treat achondroplasia. Treatment is only intended to treat complications that arise, such as:

  • Antibiotic. To treat ear infections that may be experienced by achondroplasia sufferers.
  • Anti-inflammatory medication. To treat patients with achondroplasia with joint disorders.
  • Operation. Surgery can be done to overcome complications that may occur, including:
    • Orthopedic procedure. The procedure is done by an orthopedic doctor to correct the shape of the foot O.
    • Lumbar laminectomy. An operating procedure to treat spinal stenosis.
    • Ventriculoperitoneal shunt. The surgical procedure is performed if achondroplasia sufferers experience hydrocephalus. This procedure is done by inserting a flexible hose (catheter) to drain fluid in the brain cavity into the abdominal cavity.
    • Cesarean section. The birthing procedure is generally passed by women with achondroplasia because they have small pelvic bones. Cesarean section is also performed if the fetus is diagnosed with achondroplasia. This is done to reduce the risk of bleeding due to the fetus's head being too large to be born normally.

Achondroplasia prevention

Prevention measures against achondroplasia have not been known to date. If you are a sufferer or have a family history of achondroplasia, then you can consult a geneticist to find out more about the risk of achondroplasia in a child who will be born. Achondroplasia sufferers can also take preventive measures by avoiding various dangerous activities that are at risk of damage to the spine.

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