Tetraamelia-multiple malformations syndrome

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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.

Rare and genetic diseases

Rare diseases - Tetraamelia-multiple malformations syndrome

A-Z list of rare diseases
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Tetraamelia-multiple malformations syndrome

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