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.
Contents
Characteristics
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.
Genetics
ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene, located on chromosome 20q11.2. The disease is inherited in an autosomal recessive manner.
References
Immunodeficiency–centromeric instability–facial anomalies syndrome Wikipedia(Text) CC BY-SA