Pediatric Achondroplasia (Dwarfism)

November 15, 2021
Janelle Thomas MSN, RN
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Pediatric achondroplasia, formerly known as dwarfism, is a rare genetic disorder that affects the bones. It is an autosomal dominant disease — which means that only one abnormal gene inherited from a single parent can lead to the condition. The term pediatric achondroplasia refers to this condition being present in children. When achondroplasia develops, it results in shorter arms and legs and a larger head. Boys reach an average height of about 4 feet, 4 inches. Girls reach an average height of about 4 feet, 1 inch.

Although there are specific care needs associated with this condition, children with pediatric achondroplasia can adapt and have a good quality of life. By learning more about the causes, risk factors, symptoms, diagnostic steps, potential complications and treatment options for achondroplasia, you can take a proactive approach for you and your child.

If you are a parent or guardian seeking help with caring for a child with pediatric achondroplasia, the following information can help you work more closely with care professionals.

Causes and Risk Factors for Pediatric Achondroplasia

Achondroplasia is a type of genetic disorder known as an autosomal dominant disease. This basically means that it only takes one abnormal gene from a single parent to develop. Since it is also related to a recent genetic mutation, parents are typically of normal height, although parents with achondroplasia are at a higher risk of passing the gene on.

If pediatric achondroplasia is present, the soft flexible material that typically builds bones will not properly develop. This most often happens in the arms and legs, leading to the smaller size associated with this condition.

Pediatric Achondroplasia Signs and Symptoms

No two cases of pediatric achondroplasia are the same, so the specific indicators may be different in each child. The most frequent are:

  • Larger than normal head size, also known as macrocephaly
  • Crowding of the teeth and/or crooked teeth
  • A flattened nose
  • Shorter arms and legs, with normal torso size
  • Bowed lower legs
  • Flat feet
  • Curved lower spine (lordosis or swayback)
  • Limited range of motion in the extremities
  • Loose joints and underdeveloped muscles
  • Extra space between fingers

Children with pediatric achondroplasia will generally be slow in reaching developmental milestones, particularly walking.

Potential Complications of Pediatric Achondroplasia

Achondroplasia can also put children at a higher risk of developing certain complications. These can include:

  • Structural and mechanical abnormalities, including bow leggedness and flat feet
  • Spinal deformities, such as lordosis and kyphosis that can result in postural problems and a hunchback
  • Higher frequency of ear infections
  • Difficulty breathing and even loss of breathing for short periods of time (apnea)
  • Buildup of fluid in the brain (hydrocephalus)
  • Higher risk of obesity
  • Higher risk of spinal stenosis (narrowing) and nerve compression in adulthood

Diagnosing Pediatric Achondroplasia

Pediatric achondroplasia is often detected before birth by way of prenatal ultrasound. It can also be diagnosed or confirmed at birth by a physical examination. In other situations, parents may notice slower than normal growth or other key indicators that are later confirmed as achondroplasia by a pediatrician. Diagnostic testing, such as lab work or imagery, is not usually required for a positive diagnosis.  Children with pediatric achondroplasia can expect to reach an average height of four feet, four inches in boys, and four feet, one inch in girls.

Caring for a Child with Pediatric Achondroplasia

There is no way to cure or reverse achondroplasia, so most of the therapies for this condition are designed to relieve any symptoms and help adapt to normal activity levels.

This can include:

  • Treatment of physical symptoms such as hunchback or bow leggedness through corrective aids
  • Proactively treating ear infections and apnea, if it occurs
  • Seeking mental health counseling to positively manage emotions

In rare cases, surgery may be indicated to lengthen limbs if there is severe pain or limited range of motion.

Contact Care Options for Kids For Pediatric Home Health Care

It can be hard to balance your time between work, home, and caring for a child who has a genetic disorder. Homecare providers offer the support you or your loved one needs.

That’s why our team of skilled professionals at Care Options for Kids are here to help. Our home care services offer support in the comfort of your home. We refer loving and competent caregivers to provide customized care for families – from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.