What Are Orthopaedic Birth Defects?

Orthopaedic birth defects include a wide range of conditions affecting a baby’s bones and muscles, tendons, and ligaments that connect them. These conditions occur while your baby is developing in the uterus.

Some orthopaedic birth defects heal on their own and don’t require treatment. Others can lead to complications if left untreated, including:

• Difficulty walking and running
• Bone destruction
• Deformities in bones, muscles, and joints of the limbs
• Arthritis in later life

What Causes Orthopaedic Birth Defects?

Orthopaedic birth defects happen when bone and muscle tissue develops abnormally in babies during fetal development. According to the March of Dimes, the causes for about 60 percent of birth defects are unknown. Some common risk factors may include:

• Abnormal genes inherited from a parent
• Missing or abnormal genes caused by a chromosome disorder
• Toxins including alcohol, cigarette smoke, illicit drugs, certain medications, radiation, and certain chemicals
• Severe maternal infections during pregnancy, including rubella (German measles), chicken pox, and cytomegalovirus (CMV)
• Preexisting maternal conditions such as diabetes, thyroid disease, heart disease, and high blood pressure

Types of Orthopaedic Birth Defects

Many types of birth defects result from development problems in babies. They vary from mild to life-threatening, and the most common types include:

• Clubfoot (the most common orthopaedic birth defect)
• Developmental dysplasia of the hip (DDH): Dislocated hip
• Metatarsus adductus (curved foot or intoeing involving the feet)
• Spine deformities including scoliosis (side curvature or twisting) and kyphosis (bowing)
• Osteogenesis imperfecta: Brittle-bone disease
• Muscular dystrophy: Diseases affecting the skeletal muscles
• Limb defects: Arms or legs that don’t develop normally or are missing
• Bone infections

Symptoms of Orthopaedic Birth Defects

Often, babies and children with orthopaedic birth defects may not show symptoms. Signs and symptoms to look for include:

• Visible problems with a baby’s legs, feet, arms, or hands
• Spine twisting, curvature, or bowing
• Bones that break easily
• Reduced movement in infants or difficulty walking in children

How Are Orthopaedic Birth Defects Diagnosed?

Depending on the type of orthopaedic birth defect your child may have, the pediatrician may recommend one or more of the following tests:

• Blood and urine tests to check for infection or enzyme deficiency
• Diagnostic imaging, including ultrasound, CT, and MRI scans, to examine bones, muscles, tendons, and ligaments
• X-rays to look for problems in bones
• Genetic testing, either prenatal or after birth, to check for abnormalities
• Biopsy of muscle or bone to check for a range of problems

Treatments for Orthopaedic Birth Defects

Our health care team will carefully examine your child to decide on the right treatment for the condition. At Children’s National, our treatment options include:

• Braces, splints, or casts to properly align bones and joints
• Physical therapy to improve strength and range of motion
• Occupational therapy to help build skills such as eating, getting dressed, and walking
• Surgery to adjust bones, muscles, and tendons in severe conditions