Growth & Development Defects in Congenital Orthopaedic Conditions

What Are Growth & Development Defects in Orthopaedics?

In orthopaedics, growth and development defects refer to conditions affecting the bones, joints, and muscles that are present at birth or develop in early childhood. These defects can cause abnormal bone growth, joint misalignment, and muscle dysfunction, leading to deformities such as clubfoot, scoliosis, or limb length discrepancies.

While some conditions are apparent at birth, others may not become noticeable until the child begins to grow and develop. The severity of these defects can vary, ranging from mild misalignments to more complex conditions requiring surgical intervention.

Symptoms of Growth and Development Defects

The symptoms of growth and development defects vary depending on the type and severity of the condition. Some common signs include:

Physical Abnormalities:

• Visible limb deformities such as bow legs, knock knees, or clubfoot
• Flat feet or excessively high arches which may cause discomfort or difficulty walking

Delayed Motor Development:

• Difficulty achieving age-appropriate milestones (e.g., sitting, crawling, walking).
• Poor coordination or difficulty with fine motor skills.

Abnormal Gait or Walking Patterns:

• Uneven walking patterns are caused by orthopaedic conditions such as limb length discrepancy, hip dysplasia, or neurological disorders like cerebral palsy that affect muscle control and posture.

It’s important to note that some defects may not show obvious symptoms immediately and may only be detected through medical evaluations as the child grows.

At SJMC, our paediatric specialists work with you to identify these early signs and provide interventions to optimise your child’s development.

Causes of Growth and Development Defects

The causes of growth and development defects are multifactorial, often involving a combination of genetic, environmental, and pregnancy-related influences. Some common causes include:

Genetic & Hereditary Factors:

• Inherited skeletal disorders like skeletal dysplasia or osteogenesis imperfecta can affect bone formation and strength.
• Chromosomal abnormalities such as Down syndrome or Marfan syndrome may result in orthopaedic features like joint laxity, scoliosis, or limb deformities.
• Family history of congenital orthopaedic conditions increases the risk, as certain genetic traits are inherited, heightening the likelihood of similar defects in the next generation.

Maternal Infections:

• Maternal infections such as congenital rubella can lead to limb shortening or joint contractures as part of a broader syndrome.
• Viral or bacterial infections affecting the nervous system can indirectly cause orthopaedic complications, including muscle imbalance and abnormal joint development.

Maternal Health Conditions:

• Chronic health conditions like diabetes or obesity during pregnancy increase the risk of congenital anomalies, particularly affecting the skeletal and musculoskeletal systems.
• Vitamin D deficiency during pregnancy may lead to weak bones in the baby, potentially causing rickets-like deformities.
• Calcium deficiency can impair normal bone mineralisation, raising the risk of skeletal malformations.

Birth Trauma or Neurological Conditions:

• Complications during delivery, such as oxygen deprivation, can result in conditions like cerebral palsy, which can affect movement and skeletal development.
• Neurological conditions, such as cerebral palsy, can lead to secondary orthopaedic issues, including hip dislocation, scoliosis, and joint contractures due to muscle imbalance.

Common Growth and Development Defects

Below are some specific conditions associated with growth and development defects:

• Bow Legs: A condition where the legs curve outward at the knees. It is common in infants and usually corrects itself as the child grows, but persistent cases may indicate underlying skeletal issues.
• Knock Knees: A condition where the knees touch while the ankles remain apart. It is often a normal developmental phase, but may require treatment if severe or persistent.
• Flat Feet: A condition where the arches of the feet are underdeveloped or absent. While often harmless, it can cause pain or difficulty walking in some cases.
• Cerebral Palsy: A neurological condition caused by brain injury or abnormal development, leading to motor impairments, abnormal gait, and delayed milestones.
• Skeletal Dysplasia: A group of disorders affecting bone growth, leading to short stature, limb deformities, and joint problems.
• Syndromic Conditions: Genetic syndromes like Down syndrome or Marfan syndrome, which can affect multiple systems, including skeletal, cardiovascular, and neurological.
• Limb Length Discrepancy: A condition where one limb is shorter than the other, leading to an uneven gait and potential back or hip problems.
• Malunion or Non-union of Fractures: Improper healing of broken bones, causing deformities, pain, or functional limitations.

Risk Factors for Growth and Development Defects

Certain factors may increase the risk of a child being born with growth and development defects, including:

• Advanced Maternal Age: Women over the age of 35 have a higher risk of chromosomal abnormalities that can include musculoskeletal issues, such as scoliosis or joint laxity.
• Family History: A history of skeletal disorders (e.g., skeletal dysplasia, clubfoot) increases the genetic risk.
• Consanguinity: Marriages between close relatives can increase the likelihood of inheriting genetic musculoskeletal defects.
• Uncontrolled Maternal Health Conditions: Poorly managed diabetes, hypertension, or thyroid disorders during pregnancy can interfere with normal bone and joint development.
• Nutritional Deficiencies Affecting Bone Growth: Maternal vitamin D or calcium deficiency can impair fetal bone mineralisation, increasing the risk of deformities.

Complications of Growth and Development Defects if Left Untreated

If left untreated or unmanaged, growth and development defects can lead to various complications, such as:

• Persistent Deformities: Worsening misalignment of bones or joints, impacting function and appearance.
• Chronic Joint or Bone Pain: Resulting from abnormal loading or misalignment.
• Reduced Mobility & Function: Limitations in walking, running, or performing daily activities.
• Early-Onset Arthritis: Misaligned joints wear down cartilage faster, leading to premature degenerative changes.

When to Seek Medical Advice

Whether in children or adults, certain signs and symptoms may indicate an underlying orthopaedic growth & development defect or a long-standing congenital condition that requires professional evaluation.

Seek medical advice from an orthopaedic specialist if you notice:

• Visible deformities in the limbs, spine, or joints (e.g., bow legs, knock knees, spinal curvature)
• Uneven walking, limping, or gait changes that persist or worsen over time
• Persistent bone, joint, or back pain without a clear injury
• Reduced mobility or stiffness affecting daily activities or work performance
• Leg length differences leading to imbalance or posture problems
• Progressive curvature of the spine (scoliosis) in adolescence or adulthood
• Worsening joint contractures or stiffness in individuals with conditions such as cerebral palsy or post-traumatic deformities
• Previous congenital orthopaedic conditions that have started causing pain or mobility issues in adulthood

Early assessment is important because some conditions, even if mild in childhood, can progress or cause complications later in life. Prompt treatment can help improve mobility, relieve pain, and prevent further joint or bone damage.

Reference:

1. Mayo Clinic: Congenital heart defects in children
2. Mayo Clinic: Symptoms & Causes of Marfan Syndrome
3. Johns Hopkins Medicine: Cerebral Palsy
4. Cleveland Clinic: Birth Defects
5. National Health Service (NHS): Congenital Disorders
6. Orthopedic Associates: 4 Common Childhood Orthopedic Problems
7. Better Health Channel (Victoria State Government): Birth Defects