Tetraamelia-multiple malformations syndrome

Disease Export to PDF
Name:
Tetraamelia-multiple malformations syndrome
Description:
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.
ORPHAcode:
3301
Synonyms:
Zimmer phocomelia
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14