Deformity: Definition, Causes, Types & Impact

Definition

A deformity is a visible physical abnormality in the shape, structure, or position of a body part or organ. It may be present at birth (congenital) or acquired later in life.

Common Causes

  • Congenital: Genetic mutations, chromosomal abnormalities, teratogen exposure (e.g., fetal alcohol syndrome), intrauterine constraint.
  • Traumatic: Fractures, burns, crush injuries, amputations.
  • Disease/Infection: Polio, leprosy, osteomyelitis, rheumatoid arthritis, tumors.
  • Iatrogenic: Complications from surgery or medical treatment.

Examples by Body Region

  • Musculoskeletal: Clubfoot (talipes equinovarus), scoliosis, kyphosis, limb length discrepancy, hip dysplasia.
  • Craniofacial: Cleft lip/palate, craniosynostosis, microtia.
  • Neural Tube: Spina bifida, anencephaly.
  • Hand/Foot: Syndactyly (webbed digits), polydactyly (extra digits), trigger finger.

Impact & Management

  • Physical: Functional impairment, pain, mobility limitations.
  • Psychological: Body image distress, social stigma, reduced quality of life.
  • Treatment: Surgery, orthotics/prosthetics, physical therapy, assistive devices, multidisciplinary rehabilitation.

Early intervention often improves functional and psychosocial outcomes.

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