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phocomelias

Tuesday 6 September 2005

Definition: In phocomelia, the hands are present but an intervening segment of the extremity is missing (arm and/or forearm). The hand is normal or not. One, two, three, or all limbs can be affected.

Etiology

- isolated phocomelia

  • spontaneous sporadic phocomelia
  • fetal thalidomide exposition
  • DK phocomelia syndrome (MIM.223340)
  • SC phocomelia syndrome (MIM.269000) (ESCO2 mutations)
  • X-linked tetra-amelia (MIM.301090)
  • autosomal recessive tetra-amelia (MIM.273395) (17q21)

- syndromal phocomelia

  • absence of ulna and fibula with severe limb deficiency (Schinzel phocomelia syndrome) (MIM.276820)
  • phocomelia-ectrodactyly, ear malformation, deafness and sinus arrhytmia (MIM.171480)
  • renal dysplasia-limb defects syndrome (MIM.266910)
  • Steinfeld syndrome (MIM.184705)
  • Cornelia de Lange syndrome (MIM.122470) (5p13.1)
  • microgastria-limb reduction defects association (MIM.156810) (MLRD syndrome)
  • tetraphocomelia-absent radius syndrome (MIM.274000)
  • Schinzel-Giedion syndrome (MIM.269150)
  • association phocomelia, ectrodactyly, skull defect and urinary system anomaly (8740915)

Case records

- Case 11247: Tetraphocomelia and bilateral renal agenesis

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