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.

Also known as: Zimmer phocomelia, TETAMS, TETRAAMELIA syndrome, autosomal recessive, Tetraamelia multiple malformations X-linked, Zimmer Taub Sova syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Tetraamelia-multiple malformations syndrome itself.