Tetraamelia-multiple malformations syndrome

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Tetraamelia-multiple malformations syndrome

Synonyms: Zimmer phocomelia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Tetraamelia-multiple malformations syndrome?

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