ICF syndrome

(redirected from immunodeficiency-centromeric instability-facial anomalies syndrome)

ICF syndrome

Immunodeficiency-centromeric instability-facial anomalies syndrome. A rare (50 cases in the literature, but likely underdiagnosed) autosomal recessive condition, characterised by immunodeficiency with recurrent infections, typical juxtacentromeric rearrangements in the heterochromatin of chromosomes 1, 16 and sometimes 9, mild facial dysmorphism, growth retardation, failure to thrive and psychomotor retardation.
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