Diastrophic Dysplasia

What are the signs and symptoms of diastrophic dysplasia?

Diastrophic dysplasia is a form of dwarfism, a condition in which a child’s arms and legs don’t grow to a typical adult size. In some children, short stature is the only diastrophic dysplasia symptom. In others, the condition may also cause:

• Brachydactyly, when one or more fingers are irregularly small
• Cauliflower ear, a bump on the outside of the ear that looks like cauliflower
• Cleft lip or palate
• Clubfoot-like foot deformities and knock knees
• Hip dysplasia
• Hitchhiker’s thumb, when the thumb sticks out from the hand at a right angle
• Joint problems
• Micrognathia
• Osteoarthritis
• Restrictive lung disease and airway differences
• Spine problems, including kyphosis or scoliosis

How do we diagnose diastrophic dysplasia?

We sometimes see signs of diastrophic dysplasia, such as short arms or legs, during a prenatal ultrasound before birth. Your doctor may recommend additional imaging, such as a fetal MRI, to better evaluate the developing fetus.

Your provider may also discuss further testing options, such as:

• Blood testing of one or both parents to look for gene mutations
• Chorionic villus sampling (CVS) to test cells from your placenta for the SLC26A2 gene mutation. We usually perform this test in the first trimester.
• Amniocentesis to test amniotic fluid (the protective liquid surrounding your baby) for the SLC26A2 gene mutation. We usually perform this after the first trimester.

In other cases, doctors diagnose diastrophic dysplasia after your baby is born or during early childhood based on symptoms. Your child may have additional tests such as:

• Tests to look at the collagen gene that can be obtained from blood, spit or cheek swabs
• X-rays to get a clear picture of their skeleton

How do we treat diastrophic dysplasia? 

Diastrophic dysplasia treatment varies based on your child’s symptoms. Kids with diastrophic dysplasia need regular visits with an orthopedic physician into adulthood. An orthopedic doctor monitors your child’s bone development and growth so they can quickly intervene if any problems develop.

Some children don’t need any treatment beyond regular checkups. Others may benefit from diastrophic dysplasia treatments such as:

• Assistive devices, like crutches, canes or walkers to help increase mobility
• Neurosurgery to treat spine problems
• Occupational therapy to improve fine motor skills or learn to use assistive devices
• Orthopedic surgery to treat bone or joint issues
• Physical therapy to increase mobility and strength
• Plastic surgery to treat conditions such as cleft palate or cauliflower ear
• Pulmonology to monitor and care for breathing difficulties.
• Speech therapy to improve communication and speech if a child has cleft lip or palate

Why choose us for diastrophic dysplasia treatment? 

At Children’s Hospital Colorado, our advanced care grows with your child. Pediatric experts like ours know how to care for your child now, and where they will be in the future. Our expert teams provide advanced testing, accurate diagnoses and state-of-the-art treatments. We offer:

• Orthopedic experts: Our highly specialized orthopedic team has experience in the rarest and most complex injuries and conditions. In fact, our orthopedic surgery team is among the most experienced pediatric orthopedic teams in the nation. We design effective treatment plans to help children with diastrophic dysplasia maximize their function so they can focus on being kids.
• Coordinated, multispecialty care: At Children’s Colorado, we’re setting the standard for pediatric orthopedic care. We are one of only a few children’s hospitals that provides multidisciplinary care from before birth into adulthood from nationally recognized experts in the field of skeletal dysplasia care and research. Before birth, the Colorado Fetal Care Center offers comprehensive genetic testing and state-of-the-art imaging to accurately diagnose genetic diseases such as diastrophic dysplasia. After birth, your child receives all the care they need in our Skeletal Health and Dysplasia Program, so you don’t have to travel to see many specialists.
• Research-based treatment: We conduct dozens of studies that allow us to offer the most up-to-date treatments that might not be available elsewhere. You can feel confident that your child is getting care from a pediatric team on the cutting edge of prevention, diagnosis and treatment of bone conditions like diastrophic dysplasia.
• Seamless transitions: Children with diastrophic dysplasia often benefit from ongoing support and specialty care. At Children’s Colorado, your child has seamless access to pediatric specialty care, such as rehabilitation services, orthopedic surgery, genetic counseling and more. We help you navigate transitions between care and in all aspects of your child’s life.

Contact us

Schedule an appointment with the Orthopedics Institute at 720-777-6600.

Helpful resources

• Little People of America offers support and information to children with dwarfism and their families.
• The National Organization for Rare Disorders provides further education about diastrophic dysplasia, including information on clinical trials.