Musculoskeletal deformities

Congenital Deformities

Clubfoot (Talipes Equinovarus): Characterized by inward and downward turning of the foot; often diagnosed at birth or on prenatal ultrasound.
Developmental Dysplasia of the Hip (DDH): Abnormal development of the hip joint; presents with hip instability, leg length discrepancy, and limited hip abduction in infants.
Spina Bifida: A neural tube defect leading to incomplete closure of the spinal column; may present with visible deformities on the back, neurological deficits, or hydrocephalus.
Syndactyly and Polydactyly: Fusion of fingers or toes (syndactyly) or extra digits (polydactyly); usually diagnosed at birth.

Acquired Deformities

Scoliosis: Lateral curvature of the spine; can be idiopathic, congenital, or secondary to neuromuscular conditions; often presents in adolescence.
Kyphosis: Excessive outward curvature of the spine leading to a hunched back; can be postural, due to osteoporosis, or related to Scheuermann’s disease.
Flatfoot (Pes Planus): Collapse of the medial arch of the foot; may be flexible (normal in children) or rigid (associated with pain and functional issues).
Osteoarthritis: Joint deformities such as Heberden’s nodes (DIP joints) and Bouchard’s nodes (PIP joints) are common in advanced disease.
Rheumatoid Arthritis: Causes deformities such as ulnar deviation, swan neck, and boutonnière deformities in the hands; associated with chronic joint inflammation.
Dupuytren’s Contracture: Progressive thickening of the palmar fascia leading to flexion contractures of the fingers, most commonly the ring and little fingers.
Trauma-Related Deformities: Fractures or dislocations that heal improperly can lead to deformities; common examples include malunion or nonunion of fractures.

Neuromuscular and Genetic Conditions

Cerebral Palsy: Non-progressive neurological disorder leading to muscle spasticity and contractures; common deformities include hip dislocation and equinovarus deformity of the foot.
Muscular Dystrophy: Group of genetic disorders causing progressive muscle weakness; common deformities include scoliosis and foot drop.
Marfan Syndrome: Connective tissue disorder leading to hypermobility, scoliosis, and chest deformities such as pectus excavatum.
Ehlers-Danlos Syndrome: Connective tissue disorder with joint hypermobility, skin hyperextensibility, and a propensity for joint dislocations and deformities.

Symptomatology

Onset and Duration: Determine if the deformity is congenital or acquired, and if it has worsened over time; gradual versus sudden onset can guide the differential diagnosis.
Pain: Assess whether the deformity is associated with pain; some deformities, like scoliosis, may be painless, while others, like osteoarthritis, are typically painful.
Functional Impact: Evaluate how the deformity affects mobility, dexterity, and daily activities; significant functional impairment may require surgical intervention.
Progression: Ask about the progression of the deformity, particularly in conditions like rheumatoid arthritis or scoliosis, where early intervention can alter outcomes.
Associated Symptoms: Look for systemic symptoms such as fatigue, weakness, or signs of systemic disease, which may point to underlying conditions like rheumatoid arthritis or muscular dystrophy.

Background

Past Medical History: Important to note any history of developmental delays, previous surgeries, or known genetic conditions.
Drug History: Review current and past medications, particularly corticosteroids, which can contribute to musculoskeletal deformities.
Family History: Consider family history of genetic conditions, musculoskeletal disorders, or congenital deformities.
Social History: Assess for lifestyle factors such as physical activity, occupation, and social support, which can influence the management and impact of musculoskeletal deformities.
Growth and Developmental History: Particularly relevant in pediatric patients, where growth patterns can influence the presentation and management of deformities.

Imaging

X-ray: First-line imaging for most musculoskeletal deformities; useful for assessing bone structure, joint alignment, and the extent of deformity.
MRI: Provides detailed images of soft tissue structures, including muscles, ligaments, and cartilage; useful in cases where neurological involvement or soft tissue pathology is suspected.
CT Scan: Useful for complex bone deformities, particularly in planning surgical interventions or assessing joint congruity.
Ultrasound: Useful in pediatric patients, particularly for assessing hip dysplasia or other soft tissue abnormalities.

Laboratory Tests

Inflammatory Markers: ESR and CRP are useful for assessing underlying inflammatory conditions like rheumatoid arthritis.
Rheumatoid Factor and Anti-CCP: Specific for rheumatoid arthritis; consider in patients with joint deformities and systemic symptoms.
Genetic Testing: Indicated if a genetic disorder is suspected, such as Marfan syndrome, Ehlers-Danlos syndrome, or muscular dystrophy.
Vitamin D and Calcium Levels: Consider in patients with bone deformities or fractures, especially in the context of osteomalacia or osteoporosis.
Muscle Enzymes: Elevated creatine kinase (CK) or aldolase may indicate muscular dystrophy or other myopathies.

Specialist Tests

Electromyography (EMG): Assesses the electrical activity of muscles and can help diagnose neuromuscular disorders causing deformities.
Nerve Conduction Studies: Useful in diagnosing peripheral nerve injuries or conditions like Charcot-Marie-Tooth disease.
Bone Densitometry (DEXA): Assesses bone density; indicated in cases where osteoporosis or osteopenia might contribute to deformity.
Orthopedic Referral: Consider for complex cases, especially those requiring surgical intervention or specialized management.

Child health