Congenital malformation

Children With Developmental Challenges 3(2+1)

Lesson 6 & 7 : Physical Disabilities- Orthopedic Impairment

Congenital malformation

A congenital disorder or congenital disease is a condition existing at birth and often before birth, or that develops during the first month of life (neonatal disease), regardless of causation. Of these diseases, those characterized by structural deformities are termed "congenital anomalies "; that is a different concept which involves defects in or damage to a developing fetus. The word "congenital" means "at birth."

Congenital Absence of Limbs By 7 weeks of embryonic life, the formation of all parts of the upper and lower limbs is essentially complete. Most limb deficiencies occur early in the period of limb morphogenesis, when there is rapid proliferation and differentiation of cells and tissues.

This “sensitive period” of limb formation peaks during the fifth and sixth weeks after fertilization. Thus, major malformations (e.g., absence of a long bone) appear by 7 weeks of fetal development. Depending on the timing and severity of the insult, abnormalities develop in a predictable manner. Unlike malformations, deformations—changes in formed structures due to external forces—can occur at any time during fetal development.
The most common congenital limb defects can include

  • complete or partial absence of the limb (such as fibula hemimelia or congenital absence of the tibia)
  • failure of the portion of the limb to separate (commonly seen in fingers or toes)
  • duplication (commonly seen as extra fingers or toes)
  • overgrowth (the limb is much larger than the normal limb)
  • undergrowth (the limb is much smaller than the normal limb)
  • constriction band syndrome - early rupture of the amniotic sac (inner membranes that cover the fetus in utero and contain the amnionic fluid) resulting in bands that may become entangled in the extremities of the fetus, causing immobilization, constrictions of the limbs, amputations, and other deformities.

Limb Deficiency: It refers to any number of skeletal abnormalities in which arms and legs are partially or totally missing due to by birth or by accidents. They are fitted with prosthetic device artificial limb. Children with amputations and limb deficiencies face a range of physical and psychosocial issues: including residual limb care, prosthetic fit, school and peer activities, sports participation and their normal growth and development.


Last modified: Monday, 9 April 2012, 7:32 AM