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
  • A 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)
  • A higher risk of obesity
  • A 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.

Managing Symptoms and 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.

Reach Out to the Caring Team at Care Options for Kids in Florida

If your child has a condition like pediatric achondroplasia with special care needs, we understand the challenges and complexities it can bring. The Care Options for Kids is here to help you find balance in a busy schedule and ensure your child gets the care they need.

We can provide dedicated home health services for comprehensive and flexible care. Care Options for Kids refers highly trained and caring nurses for personalized care for families. Whether you need just a few hours a day, or round-the-clock support, we are here for you.

Get in touch with our team and speak with a caring and dedicated home health care professional. You can also request a free in-home assessment. We will work closely with you and your family to build an effective home care plan for a full spectrum of diagnoses, including pediatric achondroplasia.