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Immunodeficiency, centromere instability and facial anomalies syndrome

In medicine, immunodeficiency, centromere instability and facial anomalies syndrome (ICF syndrome) is a very rare recessive autosomal disorder.

It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism , low-set ears , epicanthal folds and macroglossia .



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01-04-2007 01:21:04