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Skeletal Dysplasias

Skeletal Dysplasias Q&A

If your baby develops problems with bone or cartilage development while in the womb, Dr. Mehra and his team can help. Our fetal experts provide comprehensive evaluation and diagnosis of skeletal dysplasia to plan your baby’s care both before and after delivery. Working with pediatric experts across Advocate Children’s Hospital, we coordinate the services your baby may need from a wide range of highly qualified pediatric specialists. 

What are skeletal dysplasias?

Skeletal dysplasia refers to a group of genetic disorders that affect bone and cartilage development as babies grow in the womb. These disorders cause abnormally shaped bones in the head, spine, arms and legs, resulting in short stature.

Skeletal dysplasias can also cause heart, lung and neurologic (nervous system) problems. Some skeletal dysplasias can be life-limiting.

Types of skeletal dysplasia

There are hundreds of various 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 - baby's bones are brittle, and tend to break more easily
  • Thanatophoric dysplasia - which causes very short limbs and severe breathing difficulties 

What causes skeletal dysplasias?

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

What are the symptoms and signs of skeletal dysplasia?

Signs and symptoms of skeletal dysplasias vary widely and depend on the specific type of dysplasia involved. 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

How is skeletal dysplasia diagnosed?

Because skeletal dysplasias affect fetal bone growth, early diagnosis is crucial.  Milder signs may only be evident in the last trimester of pregnancy. If signs of skeletal dysplasia are found, additional tests using the latest fetal imaging technologies may be recommended. Those tests may include: 

After delivery, skeletal dysplasia can typically be diagnosed by distinctive physical characteristics. With advanced diagnostic imaging, the specific skeletal dysplasia affecting the baby can be identified, and a comprehensive treatment plan can be implemented.  Find out more about imaging and other tests used to diagnose fetal conditions.

Genetic testing for skeletal dysplasias

If there is a family history of skeletal dysplasia,  the family may be referred for genetics counseling.  Under certian other circumstances, genetics counseling may be helpful even without a family history of skeletal dyplasia.  Our genetic specialists provide counseling to help you decide if testing is right for your family.  After a diagnosis is made, our care team educates each family about the condiditon affecting their baby, and the care options available both durning pregnancy and after.  

How is skeletal dysplasia treated?

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

Contact Dr. Mehra's office to learn more about how he and his team can help your family through this diganosis.