[MIM 242 860]

(ICF1 syndrome)

Very rare. Autosomal recessive transmission of a mutation of the DNMT3B gene (20q11.21).

This mutation results in a deficiency in immunoglobulins (mainly IgG and IgA)  and a centromeric instability of the chromosomes 1, 9 and 16 , rarely 2: this instability leads to somatic recombination of the arms of these chromosomes.

One can observe:

-        frequent infections, especially cutaneous and respiratory  (bronchiectasies)

-        facial dysmorphism: hypertelorism, low set ears, protrusion of the tongue, epicanthus, sometimes micrognathia

-        renal dysfunction: nephrotic syndrome

-        hypoplasia of the ischium and polydactyly (osteochondrodystroplasia)

-        hearing disorders

-        hypoplasia of external genitalia 

Anesthetic implications: 

monitor renal function; antibioprophylaxis and strict application for the rules of asepsis, risk of difficult intubation 

References :  

Updated: November 2019