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

NIH info on Tetraamelia-multiple malformations syndrome

Tetraamelia-multiple malformations syndrome is a rare disease.

Resources

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Rare diseases - Tetraamelia-multiple malformations syndrome
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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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Tetraamelia-multiple malformations syndrome
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