At Hopkins Children’s, the Divisions of Orthopedics and Neurosurgery treat achondroplasia.
What is Achondroplasia?
Achondroplasia is a bone growth disorder that causes the most common form of dwarfism. It can occur in a baby as a result of one or more parents having achondroplasia, but it appears most commonly as a spontaneous mutation when neither of the parents has the condition.
- Abnormal hand appearance with persistent space between the long and ring fingers
- Bowed legs
- Decreased muscle tone
- Disproportionately large head-to-body size difference
- Prominent forehead
- Shortened arms and legs (especially the upper arm and thigh)
- Short stature (significantly below the average height for a person of the same age and sex)
- Spinal stenosis
- Spine curvatures called kyphosis and lordosis
When to Call for Help
A couple planning to start a family should consult a physician if one or both parents have achondroplasia.
Genetic counseling may be helpful for some couples. However, prevention is not always possible, because this condition most commonly appears as a spontaneous mutation.
Achondroplasia can usually be diagnosed at birth with x-rays of the long bones, if the baby shows increased front-to-back head size, or water on the brain ( hydrocephalus)
A prenatal ultrasound may show an excess of amniotic fluid around the unborn child.