What Is Skeletal Dysplasia?

It is a group of bone and cartilage issues that may affect how a baby’s skeleton develops in the womb. This can affect one in every 4,000 to 5,000 births. Signs of these conditions may not show until early childhood, when complications can arise.

What Are Signs of Skeletal Dysplasia?

There are many different skeletal dysplasia issues that can create different issues for children. Some common symptoms of skeletal dysplasia include:

• Shortening in the bones of the legs and/or arms
• Bowed or fractured bones
• A small torso
• Atypical ribs
• Missing limb
• Uneven bone growth (e.g., one leg longer than the other)
• Duplicates of fingers or toes
• Bones that are too thick or too thin
• Demineralization – bones that can break down due to lack of calcium

A child can be diagnosed with a dysplasia during a routine ultrasound near week 20 of pregnancy.

Treatment

Treatments depend on the type of dysplasia your child may have.

Nonsurgical Treatments

Enzyme replacement therapy, Vitamin D and pamidronate — a group of medicines that can help slow bone breakdown.

Surgical Treatments

Limb-lengthening or limb-straightening surgeries may be needed depending on the type of dysplasia and other conditions your child may have.

Follow-Up

Long-term outcomes for babies with skeletal dysplasia can vary greatly. It depends on the dysplasia type and any other health issues the child may have. About half of fetuses with skeletal dysplasia are stillborn or die within the first six weeks of life. However, not all kids with dysplasia have severe medical issues — many children can grow up to have relatively normal lives.