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 April 2024
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Tetraamelia-multiple malformations syndrome?
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