Tetraamelia-multiple malformations syndrome
Alternate names
Zimmer Taub Sova syndrome; Zimmer phocomelia
Definition
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.
NIH genetic and rare disease info
Tetraamelia-multiple malformations syndrome is a rare disease.
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