ICF syndrome

ICF syndrome
OMIM	242860
DiseasesDB	32366

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

Genetics

ICF syndrome has an autosomal recessive pattern of inheritance.

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.