Immunodeficiency, centromere instability and facial anomalies syndrome
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In medicine, immunodeficiency, centromere instability and facial anomalies syndrome (ICF syndrome) is a very rare recessive autosomal disorder.
Causes
It is characterized by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene.Presentation
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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