Updated: 12/25/2021

Phocomelia

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  • Snapshot
    • Following the release of an over-the-counter anti-emetic medication, several thousand children were born with varying degrees of aural and limb deformities.
  • Introduction
    • Congenital deformity of the limbs
      • linked to chromosome 8
  • Epidemiology
    • Peak incidence following release of OTC thalidomide in Germany in 1960
    • Since awareness of thalidomide association, phecomelia has grown extremely rare
  • Presentation
    • Symptoms
      • undeveloped limbs
      • short arms
      • underdeveloped, absent, or fused digits
      • small head
      • wide-set eyes
      • cleft lip and/or palate
      • small chin
    • Physical exam
      • underdeveloped or absent pelvic girdle
      • growth retardation in utero and after birth
      • hypertelorism
      • microcephaly
      • encephalocele
      • abnormal uterus
      • kidney and cardiac malformations
  • Imaging
    • May be helpful in identifying extent of underdevelopment
      • and further organ system involvement
  • Differential
    • Treacher-Collins syndrome
  • DIAGNOSIS
    • Diagnosis is based primarily on clinical observations
  • Treatment
    • Prevention
      • avoid exposure to thalidomide during pregnancy
    • Medical management
      • prostheses
        • may be adequate substitude for missing limbs, teeth, etc
    • Surgical intervention
      • reconstructive surgery
        • usually limited due to absence of significant amount of tissue, nerves, and bone
  • Complications
    • Permanent physical deformity leads to both physical limitation and emotional burden for children
  • Prognosis
    • Only 40% of infants born with this disorder survive

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