How Are Congenital Limb Deficiencies and Deformities Diagnosed?

Congenital limb deficiencies and deformities can sometimes be diagnosed during pregnancy. This can allow expectant parents to plan for treatment after their child is born.

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How Can Physicians Diagnose Congenital Limb Deficiencies and Deformities in an Unborn Baby?

Prenatal tests that can detect issues like this include:

• Blood tests
• Ultrasounds, which use sound waves to create an image of the baby
• Amniocentesis (removing and testing fluid around the fetus)

Sometimes a congenital limb deficiency or deformity simply can’t be diagnosed before birth. In some cases, the deficiency or deformity is visible only after a child is born. And even then, it might take time before the condition is noticeable.

In some cases, limb issues are obvious right at birth. In other cases, they might not become apparent until the baby’s first birthday.

But even when a limb’s outward appearance indicates that a child has a deformity, a physician might still need to perform imaging tests—like X-rays—in order to have a clear picture of the inside of the limb—including which bones are impacted by the deficiency or deformity.

Knowing which parts of the limb are impacted—both inside and out—can make it easier for the care team to develop a treatment plan tailored to your child’s needs.

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What Are the Treatment Options for Congenital Limb Deficiency and Deformity?

The goal of treatment is the same for all limb deficiencies or deformities: to maximize the limb’s function so that your child can live as normally as possible. But how the care team goes about treating your child depends on her specific needs.

Sometimes, that means no treatment is needed at all. For instance, a missing small toe or a short pinky finger may not noticeably impact your child’s day-to-day functioning, so treatment might not be necessary.

But if treatment is needed, developing the right plan depends on the type and severity of your child’s deficiency or deformity. The most common types of treatment include:

Orthotics (braces or splints)

• Help the body compensate for weak or missing limbs
• Bring unbalanced body parts back into alignment
• Provide a child with increased mobility
• Increase a child’s sense of balance

Prosthetics (artificial limbs)

• Increase a child’s mobility
• Help maintain good balance
• Improve a child’s ability to participate in daily activities
• Boost a child’s sense of independence

Physical therapy

• Teaches children how to decrease and prevent pain or injury
• Helps increase mobility
• Improves strength in weakened muscles
• Provides children with the tools they need to participate in daily living activities

Occupational therapy

• Allows children to participate in daily activities
• Helps increase independence
• Shows children how to use assistive devices or tools (such as braces or crutches)
• Can teach children exercises to prevent pain or injury

Surgery

• Might be able to correct the deformity
• Can increase the limb’s ability to function properly
• Might make fitting an orthotic or prosthesis easier, safer, and less likely to be painful
• Can improve a child’s mobility