Skeletal Dysplasia in Children

What are the signs and symptoms of skeletal dysplasia?

You may see signs of skeletal dysplasia at birth, but they can also appear later as children grow and develop. Small stature is the most common symptom of skeletal dysplasia. Other signs can appear in many areas of the body including the arms, legs, spine, torso and other areas.

Skeletal dysplasia symptoms vary by type. Other signs include:

• Large head compared to the rest of the body
• Legs that bow inward or outward (Knock knees or bowlegs)
• Stiff joints that don’t move easily in the feet, knees, ankles, wrists or fingers
• Joints that move too easily
• Short arms and legs compared to the rest of the child’s body
• Short torso compared to arms and legs
• Feet that curve inward
• Spinal curvature
• Small chest cavity that makes breathing hard
• Short fingers or toes
• Underdeveloped facial features

What are the common types of skeletal dysplasia?

There are around 400 types of skeletal dysplasia, with some more common than others. Below are the most common types of skeletal dysplasia:

• Achondroplasia: This condition prevents cartilage from turning into bone, especially in the long bones of the arms and legs.
• Type 2 Collagen Disorders (Spondyloepiphyseal dysplasia congenita – SEDC, Stickler syndrome, Kniest syndrome): Children with this condition have a short torso, cleft palate and are often nearsighted. Joint pain is common.
• Osteogenesis imperfecta: Also known as brittle bone syndrome, children with this condition have fragile bones that break easily.
• Thanatophoric dysplasia: This is a severe condition that causes a prominent forehead, short limbs, bowed legs, a small chest and spine problems. Unfortunately, it often results in death shortly after birth.
• Hypochondroplasia: Short limbs, including short hands and feet, are common symptoms of this condition.
• Campomelic dysplasia: This affects the development of a baby’s airway, lungs, bones and reproductive organs.
• Metatropic dysplasia: These children have short limbs as babies, and usually develop stiff joints and a short torso as they grow.

How do we diagnose skeletal dysplasia?

We often detect skeletal dysplasia during pregnancy via a prenatal ultrasound. Generally, the earlier we can detect it during an ultrasound, the more severe the diagnosis. Because the condition is genetic, our Colorado Fetal Care Center offers genetic testing, which may detect skeletal dysplasia even earlier than an ultrasound. This helps us better advise parents and prepares the care team that will deliver and care for the baby.

If skeletal dysplasia isn’t identified during pregnancy or through genetic testing, you or your child’s pediatrician may see symptoms as your child grows. Our doctors may request imaging or other tests, and often work with specialists across our hospital to ensure your child’s care team is prepared for your child’s specific needs.

What tests are used to diagnose skeletal dysplasia?

• X-ray: a quick and painless test that produces pictures of the inside of your child’s body
• Urine tests
• Computed tomography (CT) scan: X-ray beams and detectors create a series of photos to produce a more complete view inside your child’s body
• Magnetic resonance imaging (MRI): uses magnetic field and radio waves to view different parts of your child’s body
• Genetic testing and screening: provides you with health information either before pregnancy, during pregnancy or after birth to learn how genetic conditions may affect your family or if your baby may inherit a condition like skeletal dysplasia

How do we treat skeletal dysplasia?

There is no cure for skeletal dysplasia. However, we’ll create an individual treatment plan based on your child’s specific diagnosis and needs to help lessen their symptoms. Based on the type of skeletal dysplasia your child has, its severity and their individual needs, treatment may include:

• Reducing pain so your child is as comfortable as possible
• Using medicine to change or speed up bone growth
• Surgery to correct bone growth
• Watching your child’s growth to get a better idea about the best treatment
• Looking for vision, hearing and dental concerns

Why choose us for treatment of skeletal dysplasia?

At Children’s Colorado, we’re setting the standard for pediatric orthopedic care. We are one of only a few children’s hospital programs that provides care from before birth into adulthood from nationally recognized experts in the field of skeletal dysplasia care and research. Children with skeletal dysplasia receive all the care they need in our multidisciplinary care center, so you don’t have to travel to see many specialists. Our team provides a “medical home” for these rare conditions to add to the care provided by your pediatrician.

Our care is tailored to help your child where they are and get them to where they want to go. We specialize in caring for kids because our experts know how different they are from adults, especially for orthopedic care.

Our team’s advanced training and access to cutting edge pediatric research, imaging and technology means that we can diagnose and treat many types of skeletal dysplasia. Every patient, condition and treatment is different, and we work as a team to give the best care to your child.

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