Tetraamelia-multiple malformations syndrome

Orpha code: 3301OMIM code: 618021

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Zimmer phocomelia
Fokomelia Zimmera
ORPHA code
3301
OMIM code
618021
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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