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Tetraamelia - multiple malformations

Synonym(s) Zimmer phocomelia
Prevalence Unknown
Inheritance Autosomal recessive
or X-linked recessive
Age of onset Infancy
  • Q87.8
  • C2931218
  • C536500
MedDRA -


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.

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Anesthesia guidelines
Clinical genetics review
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