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Tetraamelia - multiple malformations

Orpha number ORPHA3301
Synonym(s) Zimmer phocomelia
Prevalence Unknown
Inheritance X-linked recessive
Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C2931218
MeSH
  • C536500
MedDRA -
SNOMED CT -

Summary

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.


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Detailed information

Anesthesia guidelines
  • EN (2013,pdf)
Clinical genetics review
  • EN (2012)
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