Nemours

What are things to watch out for?

  • Given the differences in head size relative to body size in achondroplasia and average children, it is INAPPROPRIATE to use the average developmental charts to assess an a child with achondroplasia. There are developmental charts for children with achondroplasia and it is critical that these be used.
  • We often see children with poor head control at several months of age be referred for physical therapy because this is expected for an average sized child. This should NOT be done. Infants with achondroplasia receiving physical therapy will not develop head or trunk control at a more rapid rate. Furthermore, the typical exercises done greatly increase the risk for cord compression related to foramen magnum stenosis.
  • Extreme care should be taken in the position and handling of infants so as to minimize the occurrence of sudden abnormal head and neck motion. The avoidance of soft swings, umbrella strollers and jumpers is recommended. No backpack carriers or front-pack carriers should be used until the child gains complete and total head control.
  • Properly installed rear-facing car seats with neck support when traveling in a car are important safety measures. This practice should continued until the child is 20 pounds regardless of age.
  • Head size should be monitored carefully at least every three months and at most most monthly in the first few years of life.
  • We believe that the parents should become comfortable with feeling the anterior fontanelle or soft spot located on top of the infants skull. The fontanelle should be soft and flat. If the fontanelle becomes hard (like a table top) or buldging when the child is at rest, then this should be brought to immediate medical attention.
  • Diminishing motor milestones, decreased endurance, apnea or any neurological symptoms should be quickly evaluated by an experienced physician.
  • Speech delay may indicate underlying conductive hearing loss.
  • Sleep disturbance may indicate cord compression or obstructive sleep apnea and should be brought to an experienced physicians attention immediately.