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Tetraamelia-multiple malformations syndrome

Disease 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.

ORPHA:3301

  • Synonym(s):
    • Zimmer phocomelia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 273395
  • UMLS: C2931218
  • MeSH: C536500
  • GARD: 386
  • MedDRA: -

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