Congenital Limb Differences | Symptoms & Causes
What are the symptoms of a congenital limb difference?
The most common symptoms of congenital limb differences include:
- Complete or partial absence of a limb (such as fibula hemimelia or a partial or completely missing bone)
- Overgrowth (one limb is much larger than the other limb)
- Undergrowth (one limb is much smaller than the other limb)
- A portion of the limb is fused or webbed (commonly seen in fingers or toes)
- Duplication (commonly seen as extra fingers or toes)
What causes congenital limb differences?
While we still don't know what causes most congenital limb differences, certain factors can increase a baby’s risk. These include:
- Exposure of the mother to chemicals or viruses during pregnancy
- Certain medications taken during pregnancy
Exposure to tobacco smoke during pregnancy may increase a baby’s risk of being born with a limb difference, but more research is needed to confirm that the two are linked.
Are congenital limb differences inherited?
Most congenital limb differences occur with no known cause. Certain conditions, such as extra fingers or toes, may be a passed down through families.
Congenital Limb Differences | Diagnosis & Treatments
How are congenital limb differences diagnosed?
Some congenital limb differences are first detected during a prenatal ultrasound, before the baby is born. For instance, 80 percent of clubfeet can be diagnosed through ultrasound by 24 weeks. This gives expecting parents a chance to learn about treatment options and plan ahead before their child is born.
If a limb difference is not diagnosed before birth, it can also be seen and diagnosed as soon as a child is born. The doctor will conduct a physical exam. In rare cases, a doctor may order an X-ray or MRI to confirm the diagnosis. These tests may also help them look for signs of an underlying bone issue.
How are congenital limb differences treated?
The primary goal of treatment is to ensure the child will have as much use of their limb as possible so they have the opportunity grow up to be independent and self-confident.
Depending on the limb difference and how it affects the child, treatment may include:
- Physical therapy and occupational therapy to increase strength and function
- Splint or brace to support the affected limb
- Surgery, such as reconstructive or limb-lengthening surgery, to correct the limb difference
- An artificial limb (prosthetic)
How we care for congenital limb differences at Boston Children’s Hospital
The Orthopedics and Sports Medicine Department’s Limb Lengthening and Reconstruction Program, Lower Extremity Program, and Hand and Orthopedic Upper Extremity Program and our Department of Plastic and Oral Surgery’s Hand and Reconstructive Microsurgery Program have treated thousands of babies and children with congenital limb differences. We treat a broad range of conditions, from routine to highly complex limb differences, and can provide your child expert diagnosis, treatment, and care. We also offer the benefits of some of the most advanced clinical and scientific research in the world.
Our Orthopedics and Sports Medicine Department is nationally known as the preeminent center for the care of children and young adults with a wide range of developmental, congenital, neuromuscular, sports-related, traumatic, and post-traumatic problems of the musculoskeletal system.
Our Department of Plastic and Oral Surgery is one of the largest and most experienced pediatric plastic and oral surgery centers anywhere in the world. We provide comprehensive care and treatment for a wide variety of congenital and acquired conditions, including hand deformities.
