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Congenital Limb Deficiency

Congenital Limb Deficiency. Types. Fibular deficiency most common long bone deficiency 7.4 to 20 per million births Tibial deficiency 1 per million births Proximal femoral focal deficiency (PFFD) 1 in 50 -200 000 births. Classification based on ISO/ISPO.

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Congenital Limb Deficiency

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  1. Congenital Limb Deficiency

  2. Types Fibular deficiency • most common long bone deficiency • 7.4 to 20 per million births Tibial deficiency • 1 per million births Proximal femoral focal deficiency (PFFD) • 1 in 50 -200 000 births

  3. Classification based on ISO/ISPO • Transverse – all of the limb distal is missing • Longitudinal – all or part of one or more bones in a limb is missing, could be “partial” or “total”

  4. Etiology • Errors in the genetic control of limb development • Disruptions of the developing arterial supply • Intrauterine amputations from amniotic bands

  5. Children presents with limb deficiencies, a thorough examination is necessary, any heritable genetic defect should be identified. • Education of the parents on the etiology of the congenital defect is important since majority are mainly sporadic and not transmissible-(transverse below-elbow) while others are (tibial deficiency, cleft hand and foot) • Children born to a mother with limb deficiency has 5.6 relative risk of having same defect as the mother • Thalidomide remains the only drug that is known to cause congenital limb deficiency

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