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Achondroplasia

Achondroplasia is an inherited bone disorder that occurs in one in 15,000 live births. It is the most common from of dwarfism and occurs equally in males and females. The child’s head is large, the arms and legs are shorter in comparison to torso, which is normal in size. The average height of adult males is roughly 4 feet, 4 inches. The average height of adult females is 4 feet, 1 inch.

What causes Achondroplasia?

Achondroplasia is caused by abnormal cartilage formation. Most cases of achondroplasia are due to a new mutation in the family, meaning that the parents are of average height and do not have Achondroplasia.

When both parents have Achondroplasia, with each pregnancy there is:
  • 50% chance to have a child with Achondroplasia
  • 25% chance that the child will not inherit the gene and be of average height
  • 25% chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.
What are the symptoms of Achondroplasia?

The following are the most common symptoms of Achondroplasia, however, each child may experience symptoms differently. Symptoms may include:
  • large heads, frontal bossing
  • small foramen magnum and narrow spinal canals (back bones), which may lead to breathing problems in
  • children short long bones (arms and legs) with normal sized torsos.
  • misaligned teeth
  • curved lower spine (lordosis, kyphosis)
  • bowed legs below the knee
  • broad, flat feet
  • weak muscle tone and lax joints
  • normal intelligence
How is Achondroplasia diagnosed?

Achondroplasia is often diagnosed during routine perinatal ultrasound, or shortly after birth on physical examination. DNA testing may also be performed to confirm ultrasound findings if there is a suspicion of a fetus affected by achondroplasia. MRI studies are the most commonly used method to confirm the diagnosis.

Treatment of Achondroplasia:

Most children with Achondroplasia will not need neurosurgical intervention. Neurosurgical intervention in children with Achondroplasia focuses on 4 areas:
  • If spinal cord compression is a concern, neurosurgery may be done to alleviate the condition.
  • Hydrocephalus may be a complication in some children, and if required, a shunt may need to be inserted into the brain to relieve the pressure on the brain.
  • Many children with achondroplasia are delayed in some developmental milestones such as walking, however, if their kyphosis is still present when the child begins walking, orthopedic surgery may be performed.
  • Common health concerns with children affected by achondroplasia are poor dentition and frequent ear infections. Close monitoring by a pediatrician is recommended.