ICF syndrome

Orpha code: 2268OMIM code: 614069

Definition

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

Disease data
Classification

Malformation syndrome

Synonyms
Immunodeficiency-centromeric instability-facial anomalies syndrome
Niedobór odporności - niestabilność centromeryczna - anomalie twarzy
ORPHA code
2268
OMIM code
614069
ICD10 code
D84.8
ICD11 code
4A01.00

No additional description.

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