ICF syndrome

ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder.

Genetics


ICF syndrome can be caused 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.