Immunodeficiency–centromeric instability–facial anomalies syndrome

ICF syndrome
Classification and external resources
Specialty
OMIM	242860
DiseasesDB	32366
Patient UK	Immunodeficiency–centromeric instability–facial anomalies syndrome

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

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

Immunodeficiency–centromeric instability–facial anomalies syndrome has an autosomal recessive pattern of inheritance.

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.

See also

• Bare lymphocyte syndrome
• List of cutaneous conditions

External links

• Orphanet Journal of Rare Diseases link to ICF syndrome [1]