article

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

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.

Genetic disorders

 

This article is licensed under the GNU Free Documentation License. It uses material from the "Immunodeficiency, centromere instability and facial anomalies syndrome".

Home Pageartsbusinesscomputersgameshealthhospitalshomekids & teensnewsphysiciansrecreationreferenceregionalscienceshoppingsocietysportsworld