Tetraamelia-multiple malformations syndrome

What is Tetraamelia-multiple malformations syndrome?

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

Other condition names

  • Zimmer phocomelia

Inheritance type

Autosomal recessive, X-linked recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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