Skeletal Dysplasia

Skeletal dysplasia is a term for a group of rare genetic conditions that affect a child’s bone and cartilage growth, as well as brain development and function. There are more than 400 types of skeletal dysplasia – some are present at birth and others slowly develop as the child grows.

At Banner Children’s, our caring team can help. Learn how skeletal dysplasia may affect your child, symptoms to watch for and available treatment options.

What is skeletal dysplasia?

There are 206 bones in the human skeleton. When one or more bones (or cartilage in infants) do not form or develop normally, they are called dysplastic.

Children with skeletal dysplasia will have differences in the size and shape of their legs, arms, spine and/or head (skull). In addition, these children may be shorter in height and might also have arms and legs that are shorter compared to the rest of their bodies.

What causes skeletal dysplasia?

Overall, skeletal dysplasia affects nearly one in every 4,000 to 5,000 births. Skeletal dysplasia is caused by genetic mutations that are either passed down to children from their parents (inherited) or simply happen randomly without any family history.

What are the symptoms of skeletal dysplasia?

Skeletal dysplasia may be noticed at birth, but some symptoms may not develop until early childhood. Also, because there are so many different types and levels of severity (from mild to severe), skeletal dysplasia can affect each child and their body parts differently.

Symptoms in the arms and legs include:

• Short stature (height) or slow growth
• Short forearms and thighs
• Missing or too many fingers or toes
• Bones that are too big or too thin
• Curved bones, especially bowlegs or knock knees
• Clubfoot (one or both feet point inward)
• Developmental delays, such as late walking
• Joint stiffness in fingers, wrists, ankles and feet

Symptoms in the spine and torso include:

• Small chest cavity
• Missing or fused ribs
• Extra bone growth in the spinal column that presses against the spinal cord (spinal stenosis)
• A curved spinal column that either grows too large (kyphosis) or in the wrong direction (scoliosis)

Symptoms of the head and skull include:

• Cleft lip and palate or crowded teeth
• Large head with a prominent forehead
• Hearing loss
• Vision problems
• Fluid buildup around the brain (hydrocephalus)

The different types of skeletal dysplasia

Common types of skeletal dysplasia include:

• Achondroplasia is a type of short-limbed dwarfism. Children have short forearms and legs, a large head and an average-sized torso. 
• Osteogenesis imperfecta (OI or brittle bone disease) is a group of genetic disorders where bones break easily, often for no reason.
• Achondrogenesis is a condition that affects bone formation. As a result, children may have small, narrow chests, short limbs and underdeveloped lungs.
• Short-rib polydactyly syndrome (SRPS) is a group of skeletal dysplasia conditions that affect the growth of a child’s bones. It can result in short arms and legs, short ribs and more than the typical number of fingers and/or toes.
• Campomelic dysplasia is a life-threatening form of skeletal dysplasia in newborns that affects a baby’s airways, lungs, bones and other organs.

How is skeletal dysplasia diagnosed?

Skeletal dysplasia is often first seen in pregnancy during a prenatal ultrasound. If skeletal dysplasia is detected, the pregnant person will be referred to a genetic specialist for further testing, which may include amniocentesis (testing the fluid surrounding the baby in the womb).

If your child is not diagnosed before birth, your child’s health care provider may notice symptoms during your child’s first year. Diagnosing skeletal dysplasia involves a physical exam, a review of your family’s medical history, imaging tests (like X-rays, MRIs or CT scans) to check for problems and possibly genetic testing to see if there are any genetic mutations. Geneticists and orthopedic specialists may also review test results to help with a diagnosis and treatment plan.

How is skeletal dysplasia treated?

Treatment of skeletal dysplasia will depend on what type your child has, the severity of symptoms and how it affects their body and daily life. Ideally, your child will receive care from a team of specialists that may include pediatric neurologists, orthopedic specialists, ophthalmologists and geneticists, among others.

Your child’s treatment plan may include the following:

• Braces to correct the curvature of the spine or bowing of the legs
• Physical therapy to improve muscle strength and range of motion in joints
• Growth hormone treatment to help your child’s bones grow
• Dental treatment to improve teeth crowding
• Help with proper nutrition and exercise

Surgical treatment

Depending on the type and severity of the condition, your child’s treatment plan may also include surgery. Surgical options may include:

• Correcting physical abnormalities such as a cleft lip or palate, clubfoot or bowlegs
• Draining excess fluid from the brain to relieve pressure
• Limb-lengthening surgery on arms and legs
• Spinal fusion surgery to correct scoliosis or kyphosis
• Improving breathing by removing tonsils and adenoids   

What is the long-term outlook for children with skeletal dysplasia?

The long-term outlook depends on the type and severity of the dysplasia. About half of infants with skeletal dysplasia are stillborn or die soon after birth. However, with treatment, support and careful medical monitoring throughout childhood and the teen years, most children with skeletal dysplasia can lead fulfilling lives into adulthood.

The importance of educational support

Educational support is very important for children with skeletal dysplasia. This may involve accommodations at school such as accessibility modifications, individualized education plans (IEPs), emotional support, assistive technology and tools and transition planning.

Clear communication between the school, parents and health care professionals is important to make sure a child thrives academically and socially. Your health care provider can help you understand your child’s rights for assistance at school and elsewhere. 

The emotional impact of skeletal dysplasia

Skeletal dysplasia can have an emotional impact on both your child and your family. Children with skeletal dysplasia may feel frustrated or self-conscious because of their physical differences. Families may also worry and stress about the unique needs of their child.

Support groups, counseling services and skeletal dysplasia organizations can offer resources. They can also connect you with other families who understand what you’re experiencing and help you navigate any challenges.

How we care for skeletal dysplasia at Banner Children’s

If you think your child may have skeletal dysplasia, contact Banner Children’s. Our pediatric orthopedic specialists offer your child complete care to cover all of their needs. We will also explain all treatment options to help you decide what’s best for your child.