Among many chromatin disorders we will discuss Rett and immunodeficiency, centromeric instability and facial anomalies (ICF) syndromes.
However, two- and three-dimensional ultrasonography, computed tomography and magnetic resonance imaging technologies now offer significant improvements in refining the resolution of distinctive facial anomalies.
Alobar HPE shows a monoventricle, complete non-cleavage of the cerebral hemispheres, complete absence of the falx cerebri, CC and CSP, and associated midline facial anomalies.
ICF (Immunodeficiency, Centromeric Instability, and Facial Anomalies; OMIM #242860), is a rare autosomal recessive disorder.
Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies.
Genetic deficiency of DNMT3B causes ICF syndrome, a recessive human disorder characterised by immunodeficiency, centromere instability, and facial anomalies [46].
Well known effects of fetal exposure to high levels of alcohol include facial anomalies, behavioural and CNS abnormalities, and growth restriction [14].
Facial anomalies are a heterogeneous trait in ICF syndrome and mainly include hypertelorism, epicanthal folds, abnormally low-set ears, and macroglossia.
The Immunodeficiency, Centromeric region instability and Facial anomalies (ICF) syndrome (OMIM 242860) is a rare autosomal recessive disorder often fatal in childhood [1].
For example, mutation of the DNMT3B gene causes immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome, a rare human disorder due to alteration in the methylation of minor satellite repeats [13] and genes regulating immune function and neuronal development [14].
