Tetraamelia-multiple malformations syndrome

Orpha code: 3301OMIM code: 618021

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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