You may notice some complications as early as infancy. Some will correct over time. You should watch out for them, but not all of them may need immediate care. Others may not go away on their own and may require medical intervention and, in some cases, even surgeries. It’s important to talk with your doctor to understand when medical care might be needed.
It’s important to know that while achondroplasia may cause physical challenges, your child’s cognitive development is likely not affected.1,2
Here are some of the more common complications that people with achondroplasia may experience throughout their lives:2-4,7
• Ear infections are common—affecting 68% of children (out of 22 patients screened for otological pathologic conditions)—and frequent ear infections can sometimes lead to hearing loss.
• Dental issues, like misaligned teeth, a narrow palate, open bite, or underbite
• Kyphosis, a forward bending of the spine. Most infants will develop this complication, but it usually corrects itself as they grow.
• Elbow stiffness, which often limits their ability to fully straighten their arms
• Bowed legs, which can affect walking and running, and may need surgery to manage
• Sleep apnoea, a disorder where breathing repeatedly stops and starts during sleep. Sleep apnea is common, affecting about half of all people with achondroplasia.
• Obesity is common
High blood pressure and heart disease
• Back and leg pain related to spinal stenosis
Infancy is an exciting time for new parents. It’s also an important time to watch for complications. In the first year of life, an infant with achondroplasia needs extra attention and closer medical supervision. In the early months of infancy, the healthcare team may monitor for neurologic and respiratory complications. Your child’s healthcare team should be watching for additional complications.3,5
• Buildup of fluid on the brain (hydrocephalus). In rare cases (3-5%), a surgical procedure is needed to treat this complication.
• Sleep apnea, a disorder where breathing repeatedly stops and starts during sleep
• Squeezing of the spinal cord where the skull meets the spine (cranio-cervical junction constriction). In 6% to 13% of children under 2 years of age, surgery is needed.
• Breathing problems caused by the way the bones in the face grow (midface hypoplasia) and, sometimes, small chest size and smaller lung volume
• Low muscle tone
• Delayed milestones, such as rolling over and sitting up
It may take a bit longer, but developmental milestones will happen. Your child will likely achieve them in their own time. Remember, every child’s journey will be at a different pace.
Be sure to ask your doctor about any concerns you have about your child’s development. Remember: Achondroplasia does not affect your child’s cognitive development.3
• Delayed speech, likely due to hearing loss
• “Sway back” (an inward curving of the lower back). This is common in most children with achondroplasia.
• Leg bowing (genum varum), which affects between a third and half of children with achondroplasia
• Delayed walking due to the way your child’s bones grow