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Achondroplasia

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.

Symptoms?

  • 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.

Prevention

Genetic counseling may be helpful for some couples. However, prevention is not always possible, because this condition most commonly appears as a spontaneous mutation.

Diagnosis

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.

External Links:

Little People of America 

National Institutes of Health