Skeletal dysplasia

If your baby develops problems with bone or cartilage development during pregnancy, the specialists at our Center for Fetal Care can help.

Our fetal experts provide comprehensive evaluation and diagnosis of skeletal dysplasia to plan your baby’s care. Working with pediatric experts across Advocate Children’s Hospital, we coordinate the services your baby needs from multiple fields of medicine.

What is a skeletal dysplasia?

Skeletal dysplasia refers to a group of genetic disorders that affect bone and cartilage development as babies grow during pregnancy. These disorders cause abnormally shaped bones in the head, spine, arms and legs, resulting in short stature. Skeletal dysplasia can also cause heart, breathing and neurologic (nervous system) problems. Some kinds of skeletal dysplasia can be life-limiting.

Types of skeletal dysplasia

There are hundreds of kinds of skeletal dysplasias. Some commonly known types include:

• Achondroplasia, the most common form of dwarfism
• Campomelic dysplasia, which can threaten a baby’s life because of cartilage problems in the airway
• Osteogenesis imperfecta, with bones that break very easily
• Thanatophoric dysplasia, which causes very short limbs and severe breathing problems

What causes skeletal dysplasia?

These disorders result from gene mutations (changes) that are either inherited (passed down in families) or happen randomly as the baby develops.

Skeletal dysplasia symptoms and signs

Signs and symptoms of skeletal dysplasias vary widely and depend on the type. Some signs are noticeable at birth, and others might appear later in childhood. Some signs and symptoms that are common to many skeletal dysplasias include:

• Short stature
• Large head, often with a prominent forehead
• Short upper arms and legs
• Joint stiffness, pain or arthritis
• Curved bones, including bowed legs and spine curvatures such as scoliosis
• Cleft palate or problems with teeth, such as brittleness or crowding

Skeletal dysplasia diagnosis

Because skeletal dysplasia affects fetal bone growth, it’s important to find them as early as possible. Milder signs may only be evident in the last trimester of pregnancy.

If we see any signs of skeletal dysplasia, we use the latest fetal imaging technologies to get more details for a diagnosis, including:

• Detailed fetal ultrasound
• Ultrafast fetal MRI
• Low-dose fetal computed tomography (CT) scanning, when appropriate

After delivery, we can usually diagnose skeletal dysplasia by its distinctive signs. With our advanced diagnostic imaging, we closely examine your baby to help identify the type of skeletal dysplasia and plan treatment. Find out more about imaging and other tests we use to diagnose fetal conditions, including fetal skeletal dysplasia.

Genetic testing for skeletal dysplasia

If you have a family history of skeletal dysplasia, we can refer you to our genetic team. We also do so without a family history if we see signs of skeletal dysplasia during pregnancy. Our genetic specialists provide counseling to help you decide if testing is right for your family. We help you understand the risks with skeletal dysplasia and make decisions about care.

Learn more about our genetics program.

Skeletal dysplasia treatment

Treatment options for skeletal dysplasia depend on the type of dysplasia and the effect on your baby’s body functions. Our team of pediatric specialists provide counseling and offer treatment options to help manage symptoms and conditions related to skeletal dysplasia.